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195 results

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT

Muscle & nerve, 2003 Jun

NCBI: 12766987

Enzyme therapy for Pompe disease: from science to industrial enterprise.

Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, Verbeet MP, Van Der Ploeg AT

European journal of pediatrics, 2002 Oct

NCBI: 12373583

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT

Journal of inherited metabolic disease, 2001 Apr

NCBI: 11405345

Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.

Kamphoven JH, Stubenitsky R, Reuser AJ, Van Der Ploeg AT, Verdouw PD, Duncker DJ

Physiological genomics, 2001 Apr 27

NCBI: 11328962

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT

Lancet (London, England), 2000 Jul 29

NCBI: 10972374

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