Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

Life Sciences, Genetics, Molecular Genetics +12

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

Life Sciences, Genetics, Molecular Genetics +11

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Emile Van Schaftingen, Jaak Jaeken · FEBS Letters · 1995 · 364 citations

Life Sciences, Biochemistry, Molecular Genetics +12

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

J. Jaeken, Helena Stibler, Bengt Hagberg · PubMed · 1991 · 156 citations

Medicine, Molecular Genetics, Neurology +13

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

Gert Matthijs, Els Schollen, Emile Van Schaftingen et al. · The American Journal of Human Genetics · 1998 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8