Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

Christian Kranz, Jonas Denecke, Mark A. Lehrman et al. · Journal of Clinical Investigation · 2001 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation

Isabelle Chantret, Julia Dancourt, Thierry Dupré et al. · Journal of Biological Chemistry · 2003 · 92 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation

Vibeke Westphal, Susanne Kjærgaard, Joseph A. Davis et al. · Molecular Genetics and Metabolism · 2001 · 83 citations

Life Sciences, Biochemistry, Genetics +14

Potential regulation of N-glycosylation precursor through oligosaccharide-lipid hydrolase action and glucosyltransferase-glucosidase shuttle.

Mary Jane Spiro, Robert G. Spiro · Journal of Biological Chemistry · 1991 · 69 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Erik A. Eklund, Liangwu Sun, Vibeke Westphal et al. · The Journal of Pediatrics · 2005 · 39 citations

Medicine, Molecular Genetics, Pathology +15