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Publicaties

Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP. The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease. PLoS One. 2018 Dec 7;13(12):e0208854.

Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP. Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. Acta Neuropathol Commun. 2018 Nov 7;6(1):119.

Favejee MM, van der Meijden JC, Kruijshaar ME, Rizopoulos D, van der Ploeg AT, Bussmann JBJ. Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease. Phys Ther. 2018 Nov 1;98(11):925-931.

van Capelle CI, Poelman E, Frohn-Mulder IM, Koopman LP, van den Hout JMP, Régal L, Cools B, Helbing WA, van der Ploeg AT. Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. Int J Cardiol. 2018 Oct 15;269:104-110.

Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. microRNAs as biomarkers in Pompe disease. Genet Med. 2018 Jul 12.

van der Meijden JC, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Beek NAME, van der Ploeg AT. Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. Orphanet J Rare Dis. 2018 May 22;13(1):82.

van der Wal E, Herrero-Hernandez P, Wan R, Broeders M, In 't Groen SLM, van Gestel TJM, van IJcken WFJ, Cheung TH, van der Ploeg AT, Schaaf GJ, Pijnappel WWMP. Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies. Stem Cell Reports. 2018 Jun 5;10(6):1975-1990.

Bosman L, Hoeks SE, González Candel A, van den Hout HJM, van der Ploeg AT, Staals LM. Perioperative management of children with glycogen storage disease type II-Pompe disease. Paediatr Anaesth. 2018 May;28(5):428-435.

Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP. Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. Dev Med Child Neurol. 2018 Jun;60(6):579-586.

van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT. Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy. J Inherit Metab Dis. 2018 Nov;41(6):1205-1214.

Poelman E, Hoogeveen-Westerveld M, Kroos-de Haan MA, van den Hout JMP, Bronsema KJ, van de Merbel NC, van der Ploeg AT, Pijnappel WWMP. High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy. J Pediatr. 2018 Apr;195:236-243.e3.

Kanters TA, van der Ploeg AT, Kruijshaar ME, Rizopoulos D, Redekop WK, Rutten-van Mӧlken MPMH, Hakkaart-van Roijen L. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease. Orphanet J Rare Dis. 2017 Dec 13;12(1):179.

Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology. 2017 Dec 5;89(23):2365-2373.

van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP. Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. Mol Ther Nucleic Acids. 2017 Jun 16;7:90-100.

van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP. GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP. From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides. Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361.

Mogalle K, Perez-Rovira A, Ciet P, Wens SC, van Doorn PA, Tiddens HA, van der Ploeg AT, de Bruijne M. Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI. PLoS One. 2016 Jul 8;11(7):e0158912.

Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH. Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases. J Clin Epidemiol. 2016 Nov;79:10-21.

de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW. Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genet Med. 2017 Jan;19(1):90-97.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis. 2016 May 18;11(1):65

Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM. Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge. Neurology. 2016 Mar 29;86(13):1260-1.

Wens SC, Schaaf GJ, Michels M, Kruijshaar ME, van Gestel TJ, In 't Groen S, Pijnenburg J, Dekkers DH, Demmers JA, Verdijk LB, Brusse E, van Schaik RH, van der Ploeg AT, van Doorn PA, Pijnappel WW. Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease. Circ Cardiovasc Genet. 2016 Feb;9(1):6-13

van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek NAME, Reuser AJJ, van der Ploeg AT. Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. J Inherit Metab Dis. 2016 May;39(3):383-390.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016 Mar;39(2):253-60.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW. Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease. Acta Neuropathol Commun. 2015 Oct 28;3:65.

Kanters TA, Redekop WK, Rutten-Van Mölken MP, Kruijshaar ME, Güngör D, van der Ploeg AT, Hakkaart L. A conceptual disease model for adult Pompe disease. Orphanet J Rare Dis. 2015 Sep 15;10:112.

van den Berg LE, Favejee MM, Wens SC, Kruijshaar ME, Praet SF, Reuser AJ, Bussmann JB, van Doorn PA, van der Ploeg AT. Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. Orphanet J Rare Dis. 2015 Jul 19;10:87.

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014. Neuromuscul Disord. 2015 Aug;25(8):674-8.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HA, van Doorn PA, van der Ploeg AT. Lung MRI and impairment of diaphragmatic function in Pompe disease. BMC Pulm Med. 2015 May 6;15:54.

Bronsema KJ, Bischoff R, Pijnappel WW, van der Ploeg AT, van de Merbel NC. Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS. Anal Chem. 2015 Apr 21;87(8):4394-401.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT. Quality of Life and Participation in the Daily Life (Activities) of Adults with Pompe Disease Receiving Enzyme Replacement Therapy: 10 Years of International Follow-Up. J Neuromuscul Dis. 2015;2(s1):S63. PubMed PMID: 27858652.

Wens SC, Ciet P, Perez-Rovira A, Logie K, Salamon E, Wielopolski P, de Bruijne M, Kruijshaar ME, Tiddens HW, van der Beek NA, van Doorn PA, van der Ploeg AT. Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease. J Neuromuscul Dis. 2015;2(s1):S57.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pim Pijnappel WW. Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach. J Neuromuscul Dis. 2015;2(s1):S39.

van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease. J Neuromuscul Dis. 2015;2(s1):S35.

Favejee MM, van den Berg LE, Kruijshaar ME, Wens SC, Praet SF, Pim Pijnappel WW, van Doorn PA, Bussmann JB, van der Ploeg AT. Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning. Arch Phys Med Rehabil. 2015 May;96(5):817-22.

Kanters TA, Redekop WK, Kruijshaar ME, van der Ploeg AT, Rutten-van Mölken MP, Hakkaart L. Comparison of EQ-5D and SF-6D utilities in Pompe disease. Qual Life Res. 2015 Apr;24(4):837-44.

Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW. Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach. Hum Mutat. 2015 Jan;36(1):57-68.

van El CG, Rigter T, Reuser AJ, van der Ploeg AT, Weinreich SS, Cornel MC. Newborn screening for pompe disease? a qualitative study exploring professional views. BMC Pediatr. 2014 Aug 14;14:203.

van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis. 2015 May;38(3):495-503.

Kanters TA, Hoogenboom-Plug I, Rutten-Van Mölken MP, Redekop WK, van der Ploeg AT, Hakkaart L. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease. Orphanet J Rare Dis. 2014 May 16;9:75.

van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ. Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. J Inherit Metab Dis. 2015 Mar;38(2):305-14.

Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA. Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis. 2014 May;37(3):391-7.

Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease. Gene. 2014 Mar 1;537(1):41-5.

Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ. Newborn screening for hunter disease: a small-scale feasibility study. JIMD Rep. 2014;14:23-7.

Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis. 2013 Nov 19;8:182.

Kanters TA, van der Ploeg AT, Brouwer WB, Hakkaart L. The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument. Mol Genet Metab. 2013 Nov;110(3):281-6.

Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F. Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab. 2013 Aug;109(4):371-6.

Güngör D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, van den Berg LE, Reuser AJ, van Doorn PA, Hagemans ML, Plug I, van der Ploeg AT. Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab. 2013 Jun;109(2):174-8.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet J Rare Dis. 2013 Apr 4;8:51.

Güngör D, Kruijshaar ME, Plug I, D'Agostino RB, Hagemans ML, van Doorn PA, Reuser AJ, van der Ploeg AT. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013 Mar 27;8:49.

Spiridigliozzi GA, Heller JH, Kishnani PS, Van der Ploeg AT, Ebbink BJ, Aarsen FK, van Gelder CM, Van den Hout JM. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2013 Mar 19;80(12):1173.

Seppälä EH, Reuser AJ, Lohi H. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One. 2013;8(2):e56825.

Niño MY, Mateus HE, Fonseca DJ, Kroos MA, Ospina SY, Mejía JF, Uribe JA, Reuser AJ, Laissue P. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. JIMD Rep. 2013;7:39-48.

Güngör D, Reuser AJ. How to describe the clinical spectrum in Pompe disease? Am J Med Genet A. 2013 Feb;161A(2):399-400.

van der Beek NA, Hagemans ML, van der Ploeg AT, van Doorn PA, Merkies IS. The Rasch-built Pompe-specific activity (R-PAct) scale. Neuromuscul Disord. 2013 Mar;23(3):256-64.

van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis. 2012 Nov 12;7:88.

van den Berg LE, Drost MR, Schaart G, de Laat J, van Doorn PA, van der Ploeg AT, Reuser AJ. Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype. J Inherit Metab Dis. 2013 Sep;36(5):787-94.

Rigter T, Weinreich SS, van El CG, de Vries JM, van Gelder CM, Güngör D, Reuser AJ, Hagemans ML, Cornel MC, van der Ploeg AT. Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Mol Genet Metab. 2012 Nov;107(3):448-55.

van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012 Nov;107(3):456-61.

62: de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis. 2012 Sep 26;7:73.

63: van Gelder CM, Vollebregt AA, Plug I, van der Ploeg AT, Reuser AJ. Treatment options for lysosomal storage disorders: developing insights. Expert Opin Pharmacother. 2012 Nov;13(16):2281-99.

64: Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease. Mol Genet Metab. 2012 Nov;107(3):485-9.

Favejee MM, Huisstede BM, Bussmann JB, Kruijshaar ME, van der Ploeg AT. Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients. Mol Genet Metab. 2012 Sep;107(1-2):111-5.

Reuser AJ. Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease. Genet Med. 2012 Sep;14(9):827; author reply 827-8.

Reuser AJ. Enzyme therapy in Pompe disease: questions remain. Mol Genet Metab. 2012 Sep;107(1-2):243; author reply 244.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis. 2012 Jun 7;7:35.

Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem. 2012 Jul;58(7):1139-47.

Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2012 May 8;78(19):1512-8.

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML. Public support for neonatal screening for Pompe disease, a broad-phenotype condition. Orphanet J Rare Dis. 2012 Mar 14;7:15

Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68.

van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012 May;35(3):505-11.

van der Beek NA, Verschuure H, Reuser AJ, van der Ploeg AT, van Doorn PA, Poublon RM. Hearing in adults with Pompe disease. J Inherit Metab Dis. 2012 Mar;35(2):335-41.

de Vries JM, Brugma JD, Ozkan L, Steegers EA, Reuser AJ, van Doorn PA, van der Ploeg AT. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011 Dec;104(4):552-5.

Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574-82.

van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2012 Mar;35(2):317-23.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8.

Oussoren E, Brands MM, Ruijter GJ, der Ploeg AT, Reuser AJ. Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options. Biochim Biophys Acta. 2011 Nov;1812(11):1542-56.

de Gijt JP, van Capelle CI, Oosterhuis JW, van der Ploeg AT, van der Wal KG. Gingival overgrowth in Pompe disease: a case report. J Oral Maxillofac Surg. 2011 Aug;69(8):2186-90.

van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, van Doorn PA, van der Ploeg AT, Stam H. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab. 2011 Sep-Oct;104(1-2):129-36.

Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, Hagemans ML. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011 Jun 1;6:34.

Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul;13(7):625-31.

Kanters TA, Hagemans ML, van der Beek NA, Rutten FF, van der Ploeg AT, Hakkaart L. Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis. 2011 Oct;34(5):1045-52.

Slingerland NW, Polling JR, van Gelder CM, van der Ploeg AT, Bleyen I. Ptosis, extraocular motility disorder, and myopia as features of pompe disease. Orbit. 2011 Mar;30(2):111-3.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots. Mol Genet Metab. 2011 May;103(1):12-7.

van den Berg LE, de Vries JM, Verdijk RM, van der Ploeg AT, Reuser AJ, van Doorn PA. A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. Neuromuscul Disord. 2011 Mar;21(3):232-4.

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW. Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots. Mol Genet Metab. 2011 Jan;102(1):44-8.

de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ. High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab. 2010 Dec;101(4):338-45.

van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT. Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord. 2010 Dec;20(12):775-82.

van den Berg LE, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, Reuser AJ, Zillikens MC, van der Ploeg AT. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone. 2010 Sep;47(3):643-9.

van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis. 2010 Oct;33(5):597-602.

Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat. 2010 Jul;31(7):858-65.

van Til NP, Stok M, Aerts Kaya FS, de Waard MC, Farahbakhshian E, Visser TP, Kroos MA, Jacobs EH, Willart MA, van der Wegen P, Scholte BJ, Lambrecht BN, Duncker DJ, van der Ploeg AT, Reuser AJ, Verstegen MM, Wagemaker G. Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood. 2010 Jul 1;115(26):5329-37.

Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, Hop WC, Reuser AJ, Beishuizen A, van der Ploeg AT. PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis. 2010 Apr;33(2):133-9.

Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D. Enzymatic and molecular strategies to diagnose Pompe disease. Expert Opin Med Diagn. 2010 Jan;4(1):79-89.

De Vries JM, Hagemans ML, Bussmann JB, van der Ploeg AT, van Doorn PA. Fatigue in neuromuscular disorders: focus on Guillain-Barré syndrome and Pompe disease.
Cell Mol Life Sci. 2009 Nov 16. [Epub ahead of print]

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJ, Okumiya T. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Mol Genet Metab. 2009 Jul;97(3):190-5. Epub 2009 Mar 18.

Van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ. Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.
J Inherit Metab Dis. 2009 Jun;32(3):416-23. Epub 2009 Apr 19.

Sugawara K, Saito S, Sekijima M, Ohno K, Tajima Y, Kroos MA, Reuser AJ, Sakuraba H. Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
J Hum Genet. 2009 Jun;54(6):324-30. Epub 2009 Apr 3

Van der Beek NA, Hagemans ML, Reuser AJ, Hop WC, Van der Ploeg AT, Van Doorn PA, Wokke JH. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord. 2009 Feb;19(2):113-7. Epub 2008 Dec 11.

Van der Ploeg AT, Reuser AJ. Pompe's disease.
Lancet. 2008 Oct 11;372(9646):1342-53. Review.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat. 2008 Jun;29(6):E13-26.

Van der Beek NA, Soliman OI, van Capelle CI, Geleijnse ML, Vletter WB, Kroos MA, Reuser AJ, Frohn-Mulder IM, van Doorn PA, van der Ploeg AT. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. J Neurol Sci. 2008 Aug 29. [Epub ahead of print]

Soliman OI, van der Beek NA, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, Ten Cate FJ, van der Ploeg AT, Geleijnse ML. Cardiac involvement in adults with Pompe disease. J Intern Med. 2008 Apr 4. [Epub ahead of print]

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet. 2008 Aug;16(8):875-9. Epub 2008 Feb 27.

Van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, Hop WC, Reuser AJ, van der Ploeg AT. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008 Jun;18(6):447-52. Epub 2008 May 27.

Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar;167(3):267-77. Epub 2007 Nov 23. Review.

Drost MR, Schaart G, van Dijk P, van Capelle CI, van der Vusse GJ, Delhaas T, van der Ploeg AT, Reuser AJ. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve. 2008 Feb;37(2):251-5.

Jongen SP, Gerwig GJ, Leeflang BR, Koles K, Mannesse ML, van Berkel PH, Pieper FR, Kroos MA, Reuser AJ, Zhou Q, Jin X, Zhang K, Edmunds T, Kamerling JP. N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits. Glycobiology. 2007 Jun;17(6):600-19. Epub 2007 Feb 9.

Hagemans ML, Laforêt P, Hop WJ, Merkies IS, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord. 2007 Jul;17(7):537-43. Epub 2007 May 1.

Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007 Jul;254(7):941-5. Epub 2007 Mar 2.

Jongen SP, Gerwig GJ, Leeflang BR, Koles K, Mannesse ML, van Berkel PH, Pieper FR, Kroos MA, Reuser AJ, Zhou Q, Jin X, Zhang K, Edmunds T, Kamerling JP. N-glycans of recombinant human acid {alpha}-glucosidase expressed in the milk of transgenic rabbits. Glycobiology. 2007 Feb 9; [Epub ahead of print]

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology. 2007 Jan 9;68(2):110-5.

Okumiya, T., Kroos, M. A., Vliet, L. V., Takeuchi, H., Van der Ploeg, A. T. and Reuser,A. J. 2007. 2007. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab:90(1):49-57. Epub 2006 Nov 13.

Okumiya, T., Keulemans, J. L., Kroos, M. A., Van der Beek, N. M., Boer, M. A., Takeuchi, H., Van Diggelen, O. P. and Reuser, A. 2006. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab:88:(1): 22-8

Lichtenbelt, K. D., Kroos, M. A., Sinke, R. J., Wokke, J. J., Reuser, A. J.and Ausems, M. G. 2006. Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease). Exp Mol Pathol:80:(3):308-9; author reply 310

Van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. 2006. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg;106(2):82-6. Review.

Kroos, M, Manta, P, Mavridou, I, Muntoni, F, Halley, D, Van der Helm, R, Zaifeiriou, D, Van der Ploeg, A, Reuser, A  and Michelakakis, H. 2006. Seven cases of Pompe disease from Greece. Journal of Inherited Metabolic Disease:29:(4):556-563

Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. 2006. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology, 66(4):581-3.

Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT. 2005. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol ;252(8):875-84.

Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128(Pt 3):671-677.

Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT. 2004. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 63(9):1688-92.

Van den Hout J.M.P., Kamphoven J.H.J., Winkel L.P.F., Arts W.F.M., De Klerk J.B.C., Loonen M.C.B., Vulto A.G., Cromme-Dijkhuis A., Weisglas-Kuperus N., Hop W., Van Hirtum H., Van Diggelen O.P., Boer M., Kroos M.A., Van Doorn P.A., Van der Voort E., Sibbles B., Van Corven E.J.J.M., Brakenhoff J.P.J., Van Hove J., Smeitink J.A.M., de Jong G., Reuser A.J.J., Van der Ploeg A.T. 2004. Long-Term Intravenous Treatment of Pompe’s Disease With Recombinant Human Alpha Glucosidase From Milk. Pediatrics; 113:e448-e457

Kroos M.A., Kirschner J., Gellerich F.N., Hermans M.M.P., Van der Ploeg A.T., Reuser A.J.J., Korinthenberg R. 2004. A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. Neuromuscular Disorders 14(6):371-374.

Kamphoven JH, de Ruiter MM, Winkel LP, Van den Hout HM, Bijman J, De Zeeuw CI, Hoeve HL, Van Zanten BA, Van der Ploeg AT, Reuser AJ. 2004. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neuromuscul Disord14(6):371-4.

Winkel L.P.F., Van den Hout J.M.P., Kamphoven J.H.J., Disseldorp J.A.M., Remmerswaal M., Arts W.F.M., Loonen M.C.B., Vulto A.G., Van Doorn P.A., De Jong G., Hop W., Smit G.P.A., Shapira S.K., Boer M.A., Van Diggelen O.P., Reuser A.J.J., Van der Ploeg A.T. 2004. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow up. Annals of Neurology; 55:495-502

Hermans M.M.P., Van Leenen D., Kroos M.A., Beesley C.E., Van der Ploeg A.T., Sakuraba H., Wevers R., Kleijer W., Michelekakis H., Kirk E.P., Fletcher J., Bosshard N., Basel-Vanagite L., Besley G., Reuser A.J.J. 2004. Twenty- two novel mutations in the lysosomal-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Human Mutation 23:47-56.

Winkel L.P.F., Kamphoven J.H.J., Van den Hout H.J.M.P., Severijnen L.A., Van Doorn P.A., Reuser A.J.J., Van der Ploeg A.T. 2003. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 27(6):743-51.

Van den Hout J.M.P., Hop W., van Diggelen O.P., Smeitink J.A.M., Smit G.P.A., Poll-The B.T., Bakker H.D., Loonen M.C.B., de Klerk J.B.C., Reuser A.J.J, Van der Ploeg A.T. 2003. The natural course of infantile Pompe's disease; 20 original cases compared with 133 cases from the literature. Pediatrics 112(2).

Winkel L.P.F., Van den Hout H.J.M.P., Kamphoven J.H.J., Reuser A.J.J., Van Diggelen O.P., Arts W.F.M., Van Doorn P.A., Vulto A.G., De Jong G., Van der Ploeg A.T. 2002. Preliminary results in patients with late-onset Pompe’s disease treated with recombinant human alpha-glucosidase from rabbitmilk. Neuromuscular disorders 12 (7-8) p. 761

Bodamer, O., Haas, D., Hermans, M., Reuser, A., Hoffmann, G. 2002. L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol 27: 145.

Hesselink, R.P., Gorselink, M., Schaart, G., Wagenmakers, A.J., Kamphoven, J., Reuser, A. J., Van Der Vusse, G.J., Drost, M. R. 2002. Impaired performance of skeletal muscle in alpha-glucosidase knockout mice. Muscle Nerve 25: 873-83.

Talsma, M.D., Kroos, M.A.,Visser, G., Kimpen, J.L., Niezen, K.E. 2002. A rare presentation of childhood Pompe disease: cardiac involvement provoked by Epstein-Barr virus infection. Pediatrics 109: e65

Reuser, A.J., Van Den Hout, H., Bijvoet, A.G., Kroos, M.A., Verbeet, M.P., Van Der Ploeg, A.T. 2002. Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur. J. Ped. 161 Suppl 1: S106-11.

Ausems M.G.E.M., Wokke, J.H.J., Reuser, A.J.J., Van Diggelen, O.P. 2001. Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation. Neurology 57:1938.

Winkel, L.P.F., Van den Hout, H.J.M.P., Kamphoven, J.H.J., Reuser, A.J.J., Van Diggelen, O.P., Arts, W.F.M., Van Doorn, P.A., Vulto, A.G., De Jong, G., Van der Ploeg, A.T. 2001. Preliminary findings in patients with juvenile Pompe’s disease treated with recombinant human alpha-glucosidase from rabbit milk. Am. J. Hum. Genet. S69:674.

Kamphoven, J.H.J., Stubenitsky, R., Reuser, A.J.J., Van der Ploeg, A.T., Verdouw, P.D., Duncker, D.J. 2001. Cardiac remodeling and contractile function in acid alpha-glucosidase knock-out mice. Physiol. Genomics 5:171-179.

Van der Ploeg, A.T., Van den Hout, H.J.M.P., Arts, W.F.M., Van Doorn, P.A., Reuser, A.J.J. 2001. Enzymtherpapie voor de ziekte van Pompe met recombinant humaan alpha-glucosidase: de stand van zaken. Ned. Tijdschr. Neurol. 4:124-130.

Van den Hout, J.M.P., Reuser, A.J.J., De Klerk, J.B.C., Arts, W.F., Smeitink, J.A.M., Van der Ploeg, A.T. 2001. Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J. Inherit. Metab. Dis. 24:266-274.

Ausems, M.G.E.M., Ten Berg, K, Sandkuijl, L.A., Kroos, M.A., Bardoel, A.F.J., Roumeliotie, K.N., Reuser, A.J.J., Sinke, R., Wijmenga, C. 2001. Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. J Med Genet 38:527-567.

Hirschhorn, R., Reuser, A.J.J. Glycogen storage disease type II: Acid alpha-glucosidase (Acid Maltase) deficiency. 2001. in: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, M.D., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Mc Graw-Hill, New York. pp 3389-3420.

Zwerschke, W., Mannhardt, B., Massimi, P., Nauenburg, S., Pim, D., Nickel, W., Banks, L., Reuser, A.J., Jansen-Durr, P. 2000. Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. J. Biol. Chem. 275:9534-41.

Michelakakis, H., Mavridou, I., Hermans M., Laskari, H., Kourkouli, M., Reuser A.J.J. 2000. Glycogen storage disease type II (Pompe’s disease): New mutation in a Greek infant. Paediatriki 63:421-426.

Van den Hout, H., Reuser, A.J.J., Vulto, A.G., Loonen, A.C.B., Cromme-Dijkhuis, A., Van der Ploeg, A.T. 2000. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. The Lancet 356:397-398.

Ausems, M.G.E.M., Ten Berg, K., Kroos, M.A., Van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J.H.M., Niezen-Koning, K.E., Van der Ploeg, A.T., Beemer, F.A., Reuser, A.J.J., Sandkuijl, L.A., Wokke, J.H.J. 1999. Glycogen storage disease type II: Birth prevalence agrees with predicted genotype frequency. Comm. Genet. 2:91-96.

Van Leenen, D., Bijvoet, A.G.A., Visser, P., Heuvelsland, G.F.M., Verkerk, A., Van der Horst, G.T.J., Reuser, A.J.J. 1999. A low-cost computerized system to monitor running performance and circadian rhythms of twenty mice simultaneously. Contemporary Topics in Laboratory Animal Science 38:29-32.

Bijvoet, A.G.A., Van Hirtum, H., Vermey, M., Van Leenen, D., Van der Ploeg, A.T., Mooi, W.J., Reuser, A.J.J. 1999. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J. Pathol. 189:416-424.

Bijvoet, A.G.A., Van Hirtum, H., Kroos, M.A., Van de Kamp, E.H.M., Schoneveld, O., Visser, P., Brakenhof. J.P.J., Weggemann, M., Van Corven, E.J., Van der Ploeg, A.T., Reuser, A.J.J. 1999. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum. Mol. Genet. 8:2145-2153.

Ausems, M.G.E.M., Verbiest, J., Hermans, M.M.P., Kroos, M.A., Beemer, F.A., Wokke, J.H.J., Sandkuijl, L.A., Reuser, A.J.J., Van der Ploeg, A.T. 1999. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur. J. Hum. Genet. 7:713-716.

Bijvoet, A.G.A. 1999. Therapy for Glycogen Storage Disease Type II. Acid alpha-glucosidase production in milk and enzyme replacement therapy. Academic Thesis, Erasmus University.

Ausems, M.G.M. 1999. Glycogen Storage Disease Type II: from molecular genetics to clinical practice. Academic Thesis, University of Utrecht.

Ausems, M.G.E.M., Lochman, P., Van Diggelen, O.P., Ploos van Amstel, H.K., Reuser. A.J.J., Wokke, J.H.J. 1999, A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 52:851-8532.

Bijvoet, A.G.A., Kroos, M.A., Pieper, F.R., Van der Vliet, M., De Boer, H.A., Van der Ploeg, A.T., Verbeet, M.P., Reuser, A.J.J. 1998. Recombinant human acid alpha-glucosidase: high level expresion in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum. Molec. Genet. 7:1815-1824.

Willemsen, M.A.A.P., Jira, P.E., Gabreels, F.J.M., Van der Ploeg, A.T., Smeitink, J.A.M. 1998. Drie hypotone zuigelingen met een hypertrophische cardiomyopathie: de ziekte van Pompe. 1998. Ned Tijdschr. Geneeskd. 142:1388-1392.

Nicolino, M.P., Puech, J-P., Kremer, E.J., Reuser, A.J.J., Mbebi, C., Verdiere-Sahuque, M., Kahn, A., Poenaru, L. 1998. Adenovirus mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level espression of enzyme and corrects glycogen accumulation. Hum. Mol. Genet. 7:1695-1702.

Bijvoet, A.G.A., Kroos, M.A., Van Hirtum, J.P., Van Corven E., Schoneveld, J.L.M., Oostra, B.A., Van der Ploeg, A.T., Reuser, A.J.J. 1998. Correction of enzyme deficiency and improved tissue morphology after long term enzyme replacement therapy in GSDII knock-out mice. Amer. J. Hum. Genet. 63:A397.

Van der Ploeg, A.T., Bijvoet, A.G.A., Van Hirtum, J.P., Vermey, M., Mooi, W.J., Reuser, A.J.J. 1998. Clinical and pathological changes in the GSDII knock-out mouse model. Amer.J.Human.Genet. 63:A276.

Ausems, M.G.E.M., Verbiest, J., Hermans, M.M.P., Kroos, M.A., Wokke, J.H.J., Beemer, F.A., Sandkuijl, L.A., Reuser, A.J.J., Van der Ploeg, A.T. 1998. Studies on the carrier frequency an incidence of Glycogen Storage Disease type II. Amer. J. Human. Genet. 63:A207.

Becker, J.A., Vlach, J., Raben, N., Nagaraju, K., Adams, E.M., Hermans, M.M.P., Reuser, A.J.J., Sklower-Brooks, S., Tifft, C.J., Hirschhorn, R., Huie, M.L., Nicolino, M., Plotz, P.H. 1998. The African origin of the common mutation in African-American patients with glycogen storage disease type II (GSD II). Amer. J. Hum. Genet. 62:991-994.

Bijvoet, A.G.A., Van de Kamp, E.H.M., Kroos, M.A., Ding, J-H, Yang, B.Z., Visser, P., Bakker, C.E., Verbeet, M.Ph., Oostra, B.A., Reuser, A.J.J. 1998. Knockout mouse model of glycogen storage disease type II: enzyme replacement therapy at the test. Lissabon, Europ. Human Genet Congress.

Kroos, M.A., Van Leenen, D., Verbiest, J., Reuser A.J.J., Hermans, M.M.P. 1998. Glycogen storage disease type II: Identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene. Clinical Genet. 53:379-382.

Hermans, M.M.P., Kroos, M.A., Smeitink, J.A.M., Van der Ploeg, A.T., Kleijer, W.J., Reuser, A.J.J. 1998. Glycogen storage disease type II: identification of novel mutations in infantile patients from Turkisch ancestry. Hum. Mut. 11:209-215.

Bijvoet, A.G.A., Van de Kamp, E.H.M., Kroos, M.A., Ding, J-H., Yang, B-Z., Visser, P., Bakker, C.E., Verbeet, M.P., Oostra, B.A., Reuser A.J.J., Van der Ploeg A.T. 1998. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet. 7:53-62.

Hermans, M.M.P., Van Leenen, D., Kroos, M.A., Reuser, A.J.J. 1997. Mutation detection in glycogen storage disease type II by RT-PCR and automated sequencing. Biochem. Biophys. Res. Commun. 241:414-418.

Molenaar, C.E.C., Ouwendijk, J., Wittpoth, M., Wisselaar, H.A., Hauri, H-P, Ginsel, L.A., Naim, H.Y., Fransen, J.A. 1997. A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention. J. Cell Sci. 110:557-567.

Kroos, M.A., Waitfield A.E., Joosse M., Winchester B., Reuser A.J.J., MacDermot, K.D. 1997. A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. J. Inherit. Metab. Dis. 20:556-558.

Kroos, M.A., Van der Kraan, M., Van Diggelen O.P., Kleijer W.J., Reuser, A.J.J. 1997. Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. Human Mut. 9:17-22.

Ausems M.G.E.M., Van Diggelen O.P., Lochman, P., Kroos, M.A., Reuser A.J.J., Wokke, J.H.J. 1996. The diagnostic value of analysis of acid alpha-glucosidase activity in cultured fibroblasts from patients with adult-onset acid maltase deficiency. J. Neurol. 243: S31 (abstract).

Bijvoet, A.G.A., Kroos, M.A., Pieper, F.R., De Boer, H.A., Reuser, A.J.J., Van der Ploeg, A.T., Verbeet, M.Ph. 1996. Expression of cDNA encoded human acid alpha-glucosidase in milk of transgenic mice. Biochim Biophys. Acta 1308:93-96.

Ausems, M.G.E.M., Kroos, M.A., Van der Kraan, M., Smeitink, J.A.M., Kleijer W.J., Ploos van Amstel, H.K., Reuser, A.J.J. 1996. Homozygous deletion of exon 18 leads to loss of lysosomal alpha-glucosidase and to the infantile form of glycogen storage disease type II (GSD II). Clin. Genet. 49:325-328.

Franci, C., Egea, G., Arribas, R., Reuser, A.J.J., Real, F. 1996. Lysosomal alpha-glucosidase: cell-specific processing and altered maturation in HT-29 colon cancer cells. Biochem. J. 314:33-40.

Fuller, M., Van der Ploeg, A.T., Reuser, A.J.J., Anson, D.S., Hopwood, J.J. 1995. Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase. Eur. J. Biochem. 234:903-909.

Kroos, M.A., Van der Kraan, M., Van den Boogaard, M.J., Ausems, M.G.E.M., Ploos van Amstel, H.K., Poenaru, L., Nicolino, M., Wevers, R., Van Diggelen, O.P., Kleijer, W.J., Reuser, A.J.J. 1995. Glycogen storage disease type II: The frequency of three common mutant alleles and their associated clinical phenotype studied in 121 patients. J. Med. Genet. 32:836-837.

Wokke, J.H.J., Ausems M.G.E.M., Van den Boogaard, M-J.H., Ippel, E.F., Van Diggelen, O.P., Kroos, M.A., Boer, M., Jennekens, F.G.I., Reuser, A.J.J., Ploos van Amstel, H.K. 1995. Genotype-Phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol. 38:450-454.

Kleijer, W., Van der Kraan, M., Kroos, M.A., Groener, J.E.M., Van Diggelen, O.P., Reuser, A.J.J., Van der Ploeg, A.T. 1995. Prenatal diagnosis of glycogen storage disease type II: Enzyme assay or mutation analysis ? Ped. Res. 38:103-106.

Willemsen, R., Tibbe, J.J.M., Kroos, M.A., Martin B.M., Reuser, A.J.J., Ginns, E.I. 1995. A biochemical and immunocytochemical study on the targeting of human alglucerase in murine liver. Histochem. J. 27:639-646.

Reuser, A.J.J., Kroos, M.A., Hermans, M.M.P., Bijvoet, A.G.A., Verbeet, M.P., Van Diggelen, O.P., Van der Ploeg, A.T. 1995. Glycogenosis type II (acid maltase deficiency). Muscle and Nerve 18: Supl 3, S61-S69.

Reuser, A.J.J., Kroos, M.A., Visser W.J., Willemsen R. 1994. Lysosomal storage diseases: Cellular pathology, clinical and genetic heterogeneity, therapy. Ann. Biol. Clin. 52: 721-728.

Hermans, M.M.P., De Graaff, E., Kroos, M.A, Mohkamsing, S., Eussen, H.J., Joosse M., Willemsen R., Oostra B.A, Reuser A.J.J. 1994. The effect of a single base pair deletion (_T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha glucosidase in patients with glycogen storage disease type II. Hum. Mol. Genet. 12: 2213-2218.

Fransen, J.A.M., Wisselaar, H.A., Reuser, A.J.J., Ginsel, L.A. 1994. Expression of lysosomal acid alpha-glucosidase in polarized epithelial cells. In: Mammalian brush border membrane proteins II. Lentze, M.J., Naim, H.Y., Grand, R.J. (eds.) Thieme Medical Publishers, New York. 125-132. ISBN 0 86577 5826.

Van der Kraan, M., Kroos, M.A., Joosse, M., Bijvoet, A.G.A., Verbeet, M.Ph., Kleijer, W.J., and Reuser, A.J.J. 1994. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem. Biophys. Res. Commun. 203: 1535-1541

Hermans, M.M.P., Kroos, M.A., De Graaff, E., Oostra, B.A., and Reuser, A.J.J. 1993. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Human Mutation, 2:268-273.

Reuser, A.J.J., Wisselaar H.A. 1994. An evaluation of the potential side-effects of alpha-glucosidase inhibitors used for the management of diabetes mellites. Eur. J. Clin. Invest. 24: 19-24.

Reuser, A.J.J. 1994. Pathologie van het lysosoom. In: De Cel in Medisch perspectief (J. James and F.T Bosman eds.) uit. Ned. Tijdschrift Geneesk. pp 67-73.

Reuser, A.J.J. 1993. Molecular biology, therapeutic trials and animal models of lysosomal storage diseases: type II glycogenosis as an example. Ann. Biol. Clin., 51:218-219.

Willemsen, R., Van der Ploeg, A.T., Busch, H.F.M., Zondervan, P.E., Van Noorden, C.J.F, and Reuser, A.J.J. 1993. Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. Ultrastruct. Pathol., 17:515-527.

Reuser, A.J.J. 1993. Cel en Ziekte. V. Pathologie van het lysosoom. Nederlands Tijdschrift voor Geneeskunde, 137:2028-2034.

Wisselaar, H.A., Hermans, M.M.P., Visser, W.J., Kroos, M.A., Oostra, B.A., Aspden, W., Harrison, B., Hetzel, D.J.S., Reuser, A.J.J., and Drinkwater, R.D. 1993. Biochemical genetics of glycogenosis type II in Brahman cattle. Biochem. Biophys. Res. Commun. 190:941-947.

Wisselaar , H.A., Kroos, M.A, Hermans, M.M.P., Van Beeumen, J., and Reuser, A.J.J. 1993. Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation. J. Biol. Chem. 268:2223-2231.

Hermans, M.M.P., Svetkey, L.P., Oostra, B.A., Chen, Y.T., and Reuser, A.J.J. 1993. The loss of a polymorphic glycosylation site caused by Thr-927-Ile is linked to a second polymorphic Val-816-Ile substitution in lysosomal alpha-glucosidase of American blacks. Genomics, 16:300-301.

Hermans, M.M.P., De Graaff, E., Kroos, M.A., Wisselaar, H.A., Willemsen, R., Oostra, B.A., and Reuser, A.J.J. 1993. The conservative substitution of Asp-645-Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem. J. 289:687-693.

Hermans, M.M.P., Wisselaar, H.A., Kroos M.A., Oostra, B.A., and Reuser, A.J.J. 1993. Human lysosomal alpha-glucosidase: Functional characterization of the glycosylation sites. Biochem. J. 289:681-686.

Hermans, M.M.P., Kroos, M.A., Van Beeumen, J., Oostra, B.A., and Reuser, A.J.J. 1991. Human lysosomal alpha-glucosidase: Characterization of the catalytic site. J. Biol. Chem. 266:13507-13512.

Hermans, M.M.P., De Graaff, E., Kroos, M.A., Wisselaar, H.A., Oostra, B.A., and Reuser, A.J.J. 1991. Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochem. Biophys. Res. Commun. 179:919-926.

Willemsen, R., Brunken, R., Sorber, C.W.J., Hoogeveen, A.T., Wisselaar, H.A., Van Dongen, J.M., and Reuser, A.J.J. 1991. A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cells. Histochemical J. 23:467-473.

Van der Ploeg, A.T., Kroos, M.A., Willemsen, R., Brons, N.H.C., and Reuser, A.J.J. 1991. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J. Clin. Invest. 87:513-518.

Hoefsloot, L.H., Hoogeveen-Westerveld, M., Oostra, B.A., and Reuser, A.J.J. 1991. An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA). Nucl. Acids. Res. 19:682.

Hoefsloot, L.H., Hoogeveen-Westerveld, M., Sakuraba, H., Suzuki, Y., Oostra, B., and Reuser, A.J.J. 1990. HindIII/EcoRI polymorphism in the GAA gene. Nucl. Acids Res. 18:5921.

Hoefsloot, L.H., Van der Ploeg, A.T., Kroos, M.A., Hoogeveen-Westerveld, M., Oostra, B.A., and Reuser, A.J.J. 1990. Adult and infantile Glycogenosis type II in one family, explained by allelic diversity. Am. J. Hum. Genet. 46:45-52.

Hoefsloot, L.H., Hoogeveen-Westerveld, M., Reuser, A.J.J., and Oostra, B.A. (1990). Characterization of the human lysosomal alpha-glucosidase gene. Biochem. J. 272:493-497.

Hoefsloot, L.H., Willemsen, R., Kroos, M.A., Hoogeveen-Westerveld, M., Hermans, M.P., van der Ploeg, A.T., Oostra, B.A., and Reuser, A.J.J. 1990. Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem. J. 272:485-492.

Van der Ploeg, A.T., van der Kraaij, A.M.M., Willemsen, R., Kroos, M.A., Loonen, M.C.B., Koster, J.F., and Reuser, A.J.J. 1990. Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II. Ped. Res. 28:344-347.

Galjaard, H., and Reuser, A.J.J. 1989. Genetic storage disorders. Current Opinion in Pediatrics. 1:428-435.

Van der Ploeg, A.T., Kroos, M., Swallow, D.M., Reuser, A.J.J. (1989). An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II. Ann. Hum. Genet. 53:185-192.

Swallow, D.M., Kroos, M., van der Ploeg, A.T., Griffith, B., Islam, I., Marenah, C.B., and Reuser, A.J.J. 1989. An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA 2 allele. Ann. Hum. Genet. 53:177-184.

Reuser, A.J.J. 1989. Pathogenesis and (prenatal) diagnosis of inherited diseases: Genetic heterogeneity and clinical diversity. In: den Boer, N.C., van der Heiden, C., Leijnse, B., & Souverijn, J.H.M., eds. Proceedings of the Thirteenth International Congress of Clinical Chemistry and the Seventh European Congress of Clinical Chemistry. New York: Plenum Publishing Corporation, pp. 55-62.

Wisselaar, H.A., van Dongen, J.M., and Reuser, A.J.J. 1989. Effects of N-hydroxyethyl-l-deoxynojirimycin (Bay m1099) on the activity of neutral and acid alpha-glucosidases in human fibroblasts and HepG2 cells. Clin. Chim. Acta 182:41-52.

Van der Ploeg, A.T., Kroos, M., Swallow, D.M., and Reuser, A.J.J. 1989. An investigation of the possible influence of neutral alpha-glucosidase on the clinical heterogeneity of glycogenosis type II. Ann. Hum. Genet. 53:185-192.

Van der Ploeg, A.T., Hoefsloot, L.H., Hoogeveen-Westerveld, M., Petersen, E.M., and Reuser, A.J.J. 1989. Glycogenosis Type II: Protein and DNA analysis in Five South African Families from Various Ethnic Origins. Am. J. Hum. Genet. 44:787-793.

Reuser, A.J.J., Willemsen, R., van der Ploeg, A.T., Kroos, M., Hoefsloot, E.H., and Oostra, B.A. (1988). Clinical diversity in lysosomal storage disorders: molecular and cellular aspects. In: Salvayre R., Douste-Blazy, L., & Gatt, S., eds. Proceedings of the NATO advanced Research Workshop and INSERM Symposium on Lipid Storage Disorders: Biological and Medical Aspects. New York: Plenum Publishing Corporation, pp. 547-558.

Van der Ploeg, A.T., Loonen, M.C.B., Bolhuis, P.A., and Reuser, A.J.J. 1988. Differential approaches to therapy in lysosomal storage disorders. In: Salvayre, R., Douste-Blazy, L. & Gatt, S., eds. Proceedings of the NATO Advanced Research Workshop and INSERM Symposium on Lipid Storage Disorders: Biological and Medical Aspects. New York: Plenum Publishing Corporation 150:771-778.

Suzuki, Y., Tsuji, A., Omura, K., Nakamura, G., Awa, S., Kroos, M., and Reuser, A.J.J. 1988. Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement. Clin. Genet. 33:376-385.

Van der Ploeg, A.T., Bolhuis, P.A., Wolterman, R.A., Visser, J.W., Loonen, M.C.B., Busch, H.F.M, and Reuser, A.J.J. 1988. Prospect for enzyme therapy in Glycogenosis type II: a study on cultured muscle cells. J. Neurol. 235:392-396.

Hoefsloot, L.H., Hoogeveen-Westerveld, M., Kroos, M.A., van Beeumen, J., Reuser, A.J.J., and Oostra, B.A. 1988. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. The EMBO J. 7:1697-1704.

Willemsen, R., Kroos, M., Hoogeveen, A.T., van Dongen, J.M., Parenti, G., van der Loos, C.M., and Reuser, A.J.J. 1988. Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor. Histochem. J. 20:41-51.

Van der Ploeg, A.T., Loonen, M.C.B., Bolhuis, P.A., Busch, H.F.M., Reuser, A.J.J., and Galjaard, H. 1988. Receptor-mediated uptake of acid ?-glycosidase corrects lysosomal glycogen storage in cultured skeletal muscle. Pediat. Res. 24:90-104.

Tager, J.M., Oude Elferink, R.P.J., Reuser, A.J.J., Kroos, A., Ginsel, L.A., Fransen, J.A.M., and Klumperman, J. 1987. Alpha-glucosidase deficiency (Pompe's disease). In: Enzyme v. 38. Novel mechanism of inborn errors of metabolism. Bachmann, C., Colombo, J.P., Eppenberger, H., Greengard, O., Sperling, O., Wiesmann, U., eds. S. Karger AG, Basel, Switzerland. pp. 280-285.

Mutsaers, J.H.G.M., van Halbeek, H., Vliegenthart, J.F.G., Tager, J.M., Reuser, A.J.J., Kroos, M., and Galjaard, H. 1987. Determination of the structure of the carbohydrate chains of acid alpha-glucosidase from human placenta. Biochim. Biophys. Acta 911:244-251.

Willemsen, R., Hoogeveen, A.T., Reuser, A.J.J., and van Dongen, J.M. 1987. Immunoelectron microscopical localization of lysosomal hydrolases in normal and I-cell fibroblasts. In: Cells, membranes and disease, including renal. Reid, E., Cook, G.M.W., Luzio, J.P. eds. Plenum Publishing Corporation, New York. pp. 135-137.

Reuser, A.J.J., Kroos, M., Willemsen, R., Swallow, D., Tager, J.M., and Galjaard, H. 1987. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J. Clin. Invest. 79:1689-1699.

Van der Horst, G.T.J., Hoefsloot, E.H., Kroos, M.A., and Reuser, A.J.J. 1987. Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II. Biochim. Biophys. Acta. 910:123-129.

Van der Ploeg, A.T., Kroos, M., van Dongen, J.M. Visser, W.J., Bolhuis, P.A., Loonen, M.C.B., and Reuser, A.J.J. 1987. Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid ?- glucosidase. J. Neurol. Sci. 79:327-336.

Hoogerbrugge, P.M., Wagenmaker, G., van Bekkum, D.W., Reuser, A.J.J., and van der Ploeg, A.T. 1986. Bone marrow transplantation for Pompe's disease. New Engl. J. Med. 315:65-66.

Sips, H.J., Reuser, A.J.J., and van der Veer, A. 1986. Synthesis and intracellular localization of chick acid alpha-glucosidase in chick erythrocytes human fibroblast heterokaryons. Exp. Cell Res., 162:555-561.

De Jonge, A.J.R., de Smit, S., Kroos, M.A.,and Reuser, A.J.J. 1985. Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA. Hum. Genet. 69:32-38.

Oude Elferink, R.P.J., van Doorn-Wakkeren, J., Strijland, A., Reuser, A.J.J., Tager, J.M. 1985. Biosynthesis and intracellular transport of alpha-glucosidase and cathepsin D in normal and mutant human fibroblasts. Eur. J. Biochem. 153:55-63.

Van Dongen, J.M., Willemsen, R., Ginns, E.I., Sips, H.J., Tager, J.M., Barranger, J.A., and Reuser, A.J.J. 1985. The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study. Eur. J. Cell Biol. 39:179-189.

Walvoort, H.C., Koster, J.F., and Reuser, A.J.J. 1985. Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res. Vet. Sci. 38:174-178.

Sips, H.J., de Jonge, N., van Dongen, J.M., Ramaekers, F.C.S., and Reuser, A.J.J. 1985. Monoclonal antibody to human lysosomal alpha-glucosidase in immunocyto-chemistry: unexpected reactivity with cytoskeletal structures. Histochem. J. 17, 1043-1052.

Reuser, A.J.J., Kroos, M., Oude Elferink, R.P.J., and Tager, J.M. 1985. Defects in synthesis, phosphorylation and maturation of acid alpha-glucosidase in glycogenosis type II. J. Biol. Chem. 260, 8336-8341.

De Jonge, A.J.R., van Waardenburg-de Smit, S., Kroos, M.A., Westerveld, A., Reuser, A.J.J., and Bootsma, D. 1984. Chromosome mediated transfer of TKI, GALK and GAA. Cytogenet. Cell Genet. 37:501.

Oude Elferink, R.P.J., Strijland, A., Surya, I., Brouwer-Kelder, E.M., Kroos, M., Hilkens, J., Hilgers, J., Reuser, A.J.J., and Tager, J.M. 1984. Use of a monoclonal antibody to distinguish between precursor and mature forms of human lysosomal alpha-glucosidase. Eur. J. Biochem. 139:497-502.

Oude Elferink, R.P.J., Brouwer-Kelder, E.M., Surya, I., Strijland, A., Kroos, M., Reuser, A.J.J., and Tager, J.M. 1984. Isolation and characterization of a precursor form of lysosomal alpha-glucosidase from human urine. Eur. J. Biochem. 139:489-495.

Walvoort, H.C., Slee, R.G., Sluis, K.J., Koster, J.F., and Reuser, A.J.J. 1984. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am. J. Med. Genet. 19:589-598.

Reuser, A.J.J., Kroos, M.A., Ponne, N.J., Wolterman, R.A., Loonen, M.C.B., Busch, H.F.M., Visser, W.J., and Bolhuis, P.A. 1984. Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle from glycogenosis II patients. Exp. Cell Res. 155, 178-189.

Tager, J.M., Oude Elferink, R., Reuser, A.J.J., Hilkens, J., and Hilgers, J. 1984. Processing of human lysosomal alpha-glucosidase. In: Molecular basis of lysosomal storage disorders. Barranger, J.A., Brady, R.O., eds. Academic Press, New York, pp. 273-286.

Reuser, A.J.J. 1984. Genetic heterogeneity in lysosomal storage disorders studied by somatic cell hybridization. In: Molecular basis of lysosomal storage disorders. Barranger, J.A., Brady, R.O., eds. Academic Press, New York, pp. 287-310.

Galjaard, H., and Reuser, A.J.J. 1984. Genetic aspects of lysosomal storage diseases. In: Lysosomes in biology and pathology. Dingle, J.T., Dean, R.T., Sly, W., eds. Elsevier Science Publishers, Amsterdam. pp. 315-345.

Konings, A., Hupkes, P., Versteeg, R., Grosveld, G., Reuser, A.J.J., and Galjaard, H. 1984. Cloning a cDNA for the lysosomal alpha-glucosidase. Biochem. Biophys. Res. Commun. 119:252-258.

Reuser, A.J.J., and Galjaard, H. 1984. Deficiencies of ß-galactosidase and acid alpha-glucosidase as models to study lysosomal enzyme formation. In: Cellular and pathological aspects of glycoconjugate metabolism. INSERM vol. 126, pp. 527-542.

Tager, J.M., Ginns, E.I., Tegelaers, F.P.W., Barneveld, R.A., Schram, A.W., Brady, R.O., Galjaard, H., Reuser, A.J.J., and Barranger, J.A. 1983. Immunological approaches to the diagnosis of lysosomal storage diseases and heterozygote detection. In: Screening and management of potentially treatable genetic metabolic disorders. Bendson, P.F., ed. MTP press, pp. 49-58.

Tager, J.M., Oude Elferink, R., Brouwer-Kelder, B., Strijland, A., Hilkens, J., Reuser, A.J.J., Kroos, M., Surya, I., Paape, M., and Hilgers, J. 1983. Multiple molecular forms of human acid alpha-glucosidase. In: Isozymes: current topics in biological and medical research. Vol. 7: Molecular structure and regulation, Alan R. Liss New York, pp. 101-112.

Van der Veer, E., Barneveld, R.A., and Reuser, A.J.J. 1982. Expression of lysosomal enzymes in human mutant fibroblast-chick erythrocyte heterokaryons. Exp. Cell Res. 142:235-245.

Reuser, A.J.J., and Kroos, M. 1982. Adult forms of glycogenosis type II: a defect in an early stage of acid ?-glycosidase realization. FEBS Lett. 146:361-364.

Halley, D.J.J., de Wit-Verbeek, H.A., Reuser, A.J.J., and Galjaard, H. 1978. The distribution of hydrolytic enzyme activities in human fibroblast cultures and their intercellular transfer. Biochem. Biophys. Res. Commun. 82:1176-1182.

Reuser, A.J.J., Koster, J.F., Hoogeveen, A., and Galjaard, H. 1978. Biochemical, immunological and cell genetic studies in glycogenosis type II. Am. J. Hum. Genet. 30:132-143.

Reuser, A.J.J. 1977. Clinical, biochemical and genetic heterogeneity in lysosomal storage diseases. Academic Thesis. Erasmus University Rotterdam.

Reuser, A.J.J., Halley, D., de Wit, E., Hoogeveen, A., van der Kamp, M., Mulder, M.P., and Galjaard, H. 1976. Intercellular exchange of lysosomal enzymes: enzyme assays in single human cells after co-cultivation. Biochem. Biophys. Res. Commun. 69:311-318.

Reuser, A.J.J., Jongkind, J.F., and Galjaard, H. 1976. Methods of analysis of acid alpha-1,4-glucosidase activity in single hybrid cells. J. Histochem. Cytochem. 24:578-586.

Galjaard, H., Hoogeveen, A.T., de Wit-Verbeek, H.A., Keijzer, W., and Reuser, A.J.J. 1975. Genetic heterogeneity in inborn errors of metabolism studied by enzyme analysis in single somatic cell hybrids. Histochem. J. 7:499-501.

Reuser, A.J.J. Mulder, M.P., Halley, D., and Galjaard, H. 1975. In vitro studies on the intercellular exchange of lysosomal enzymes between normal and enzyme deficient human fibroblasts. Histochem. J. 7:502-503.

Galjaard, H., and Reuser, A.J.J. 1974. Intercellular exchange of lysosomal enzymes a general phenomenon? In: Enzyme therapy in lysosomal storage diseases. Tager, J.M., Hooghwinkel, G.J.M., Daems, W.Th., eds. North-Holland Publishing Company, Amsterdam, pp. 175-177.

Galjaard, H., Reuser, A.J.J., Heukels-Dully, M.J., Hoogeveen, A.T., Keijzer, W., de Wit-Verbeek, H.A., and Niermeijer, M.F. 1974. Genetic heterogeneity and variation of lysosomal enzyme activities in cultured human cells. In: enzyme therapy in lysosomal storage diseases. Tager, J.M., Hooghwinkel, G.J.M., Daems, W.Th., eds. North-Holland Publishing Company, Amsterdam, pp. 35-51.