Claudia E. Grubenmann

Statistics

Publications

Citations

557

H-Index

Active since

2001

Affiliations

University of Zurich(Current)

KU Leuven

École Polytechnique Fédérale de Lausanne

Claudia E. Grubenmann is an author at University of Zurich specializing in life sciences, glycosylation defects, and congenital glycosylation disorders.

Publications per year

2001–2005

Publications

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Barbara Schenk, Timo Imbach, Christian Frank et al. · Journal of Clinical Investigation · 2001 · 144 citations

Life Sciences, Genetics, Molecular Biology +16

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

Claudia E. Grubenmann · Human Molecular Genetics · 2002 · 119 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL

Christian Frank, Wafaa Eyaid, Eric G. Berger et al. · The American Journal of Human Genetics · 2004 · 93 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik

Claudia E. Grubenmann · Human Molecular Genetics · 2004 · 90 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

CDG‐IL: An infant with a novel mutation in the<i>ALG9</i>gene and additional phenotypic features

Michael Weinstein, Els Schollen, Gert Matthijs et al. · American Journal of Medical Genetics Part A · 2005 · 48 citations

Life Sciences, Genetics, Molecular Genetics +13

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