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Publicaties Ziekte van Pompe

208 resultaten

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT

Human molecular genetics, 1998 Jan

NCBI: 9384603

Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice.

Bijvoet AG, Kroos MA, Pieper FR, de Boer HA, Reuser AJ, van der Ploeg AT, Verbeet MP

Biochimica et biophysica acta, 1996 Aug 14

NCBI: 8764823

Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II.

Willemsen R, van der Ploeg AT, Busch HF, Zondervan PE, Van Noorden CJ, Reuser AJ

Ultrastructural pathology

NCBI: 8256296

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT

Muscle & nerve. Supplement, 1995

NCBI: 7603530

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT

Pediatric research, 1995 Jul

NCBI: 7478785

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.

van der Ploeg AT, Kroos M, van Dongen JM, Visser WJ, Bolhuis PA, Loonen MC, Reuser AJ

Journal of the neurological sciences, 1987 Jul

NCBI: 3302116

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells.

van der Ploeg AT, Bolhuis PA, Wolterman RA, Visser JW, Loonen MC, Busch HF, Reuser AJ

Journal of neurology, 1988 Sep

NCBI: 3065462

Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle.

Van der Ploeg AT, Loonen MC, Bolhuis PA, Busch HM, Reuser AJ, Galjaard H

Pediatric research, 1988 Jul

NCBI: 2970619

An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.

Van der Ploeg AT, Kroos MA, Swallow DM, Reuser AJ

Annals of human genetics, 1989 05

NCBI: 2688540

An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele.

Swallow DM, Kroos M, Van der Ploeg AT, Griffiths B, Islam I, Marenah CB, Reuser AJ

Annals of human genetics, 1989 05

NCBI: 2688539

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Van der Ploeg AT, Hoefsloot LH, Hoogeveen-Westerveld M, Petersen EM, Reuser AJ

American journal of human genetics, 1989 Jun

NCBI: 2658562

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

Hoefsloot LH, van der Ploeg AT, Kroos MA, Hoogeveen-Westerveld M, Oostra BA, Reuser AJ

American journal of human genetics, 1990 Jan

NCBI: 2403755