N. U. Bosshard

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

M M Hermans, Dik van Leenen, Marian A. Kroos et al. · Human Mutation · 2003 · 152 citations

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants

Gary Hin‐Fai Yam, N. U. Bosshard, Christian Zuber et al. · American Journal of Physiology-Cell Physiology · 2006 · 131 citations

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Marju Orho, N. U. Bosshard, Neil R.M. Buist et al. · Journal of Clinical Investigation · 1998 · 130 citations · Full text

Metabolic Syndrome, Hepatology, Biochemistry +15

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Pérez-Lezaun, Dora Angelicheva et al. · The American Journal of Human Genetics · 1999 · 78 citations · Full text

Biology, Founder Mutation, Genetic Disorder +6

Feline Mucopolysaccharidosis VII Due to β-glucuronidase Deficiency

R Gitzelmann, N. U. Bosshard, Andrea Superti‐Furga et al. · Veterinary Pathology · 1994 · 70 citations · Full text