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226 results

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model.

Bijvoet AG, Van Hirtum H, Vermey M, Van Leenen D, Van Der Ploeg AT, Mooi WJ, Reuser AJ

The Journal of pathology, 1999 Nov

NCBI: 10547605

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.

Bijvoet AG, Van Hirtum H, Kroos MA, Van de Kamp EH, Schoneveld O, Visser P, Brakenhoff JP, Weggeman M, van Corven EJ, Van der Ploeg AT, Reuser AJ

Human molecular genetics, 1999 Nov

NCBI: 10545593

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT

European journal of human genetics : EJHG, 1999 Sep

NCBI: 10482961

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA

Nederlands tijdschrift voor geneeskunde, 1998 Jun 13

NCBI: 9752027

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.

Bijvoet AG, Kroos MA, Pieper FR, Van der Vliet M, De Boer HA, Van der Ploeg AT, Verbeet MP, Reuser AJ

Human molecular genetics, 1998 Oct

NCBI: 9736785

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ

Human mutation, 1998

NCBI: 9521422

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