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Publications

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.