Carbohydrate‐deficient glycoprotein syndromes: The Italian experience

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

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

Neurological Disorder, Medicine, Inherited Metabolic Disease +8

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Patricie Burda, Lubor Borsig, J de Rijk-van Andel et al. · Journal of Clinical Investigation · 1998 · 98 citations · Full text

Glycoproteomics, Protein Glycosylation, Biosynthesis +15

Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J. Jaeken, J Artigas-Pallarés, Rita Barone et al. · Journal of Inherited Metabolic Disease · 1997 · 66 citations

Phosphomannomutase Deficiency, Biochemistry, Bioanalysis +7

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Agata Fiumara, Rita Barone, P Buttitta et al. · British Journal of Ophthalmology · 1994 · 27 citations · Full text