Výsledky vyhledávání - N. U. Bosshard
- Zobrazuji výsledky 1 - 2 z 2
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1
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Autor Marju Orho, N. U. Bosshard, Neil R.M. Buist, R Gitzelmann, A Aynsley‐Green, Peter Blümel, Mary C. Gannon, Frank Q. Nuttall, L. Groop
Vydáno 1998Artigo -
2
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II Autor M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser
Vydáno 2003Artigo
Vyhledávací nástroje:
Související témata
Biology
Endocrinology
Gene
Genetics
Glycogen
Glycogen storage disease
Internal medicine
Medicine
Missense mutation
Mutation
Allele
Biochemistry
Biopsy
Diabetes mellitus
Disease
Enzyme
Enzyme replacement therapy
Exon
Gene mutation
Genotype
Genotype-phenotype distinction
Glycogen branching enzyme
Glycogen debranching enzyme
Glycogen storage disease type II
Glycogen synthase
Hypoglycemia
Liver biopsy
Lysosomal storage disease
Molecular biology
Phenotype