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Human Genetics|January 1, 1983

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodiesR A Barneveld, W Keijzer, F P Tegelaers, et al.

Annals of Neurology|September 1, 1995

Genotype-phenotype correlation in adult-onset acid maltase deficiencyJ H Wokke, M G Ausems, M J van den Boogaard, et al.

Human Molecular Genetics|November 5, 1999

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type IIA G Bijvoet, H Van Hirtum, M A Kroos, et al.

Human Molecular Genetics|February 28, 1998

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe diseaseA G Bijvoet, E H van de Kamp, M A Kroos, et al.

Clinical Genetics|November 1, 1996

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.

Community Genetics|June 8, 2004

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.

Journal of Medical Genetics|June 1, 1996

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.

Neuromuscular Disorders : NMD|September 7, 2010

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label studyC I van Capelle, N A M E van der Beek, M L C Hagemans, et al.

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Showing results (91-100 of 98) with videos related to

Sort By:

Pageof 10

You have reached the last page of results.This site can display upto 98 results.

Human Genetics|January 1, 1983

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodiesR A Barneveld, W Keijzer, F P Tegelaers, et al.

Annals of Neurology|September 1, 1995

Genotype-phenotype correlation in adult-onset acid maltase deficiencyJ H Wokke, M G Ausems, M J van den Boogaard, et al.

Human Molecular Genetics|November 5, 1999

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type IIA G Bijvoet, H Van Hirtum, M A Kroos, et al.

Human Molecular Genetics|February 28, 1998

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe diseaseA G Bijvoet, E H van de Kamp, M A Kroos, et al.

Clinical Genetics|November 1, 1996

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.

Community Genetics|June 8, 2004

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.

Journal of Medical Genetics|June 1, 1996

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.

Neuromuscular Disorders : NMD|September 7, 2010

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label studyC I van Capelle, N A M E van der Beek, M L C Hagemans, et al.

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