The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

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 · 361 citations

Mendelian Disorder, Genetic Disorder, Phosphomannomutase Gene +9

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

Emile Van Schaftingen, Jaak Jaeken · FEBS Letters · 1995 · 357 citations

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 159 citations

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

Mendelian Disorder, Genetic Disorder, Genetics +8

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

Els Schollen, Susanne Kjærgaard, Eric Legius et al. · European Journal of Human Genetics · 2000 · 122 citations · Full text

Prevalent Pmm2 Mutation, Hardy-weinberg Equilibrium, Mendelian Disorder +11