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

The I.M.A.G.E. Consortium: An Integrated Molecular Analysis of Genomes and Their Expression

Greg Lennon, Charles Auffray, Mihael H. Polymeropoulos et al. · Genomics · 1996 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, M Vanderschueren‐Lodeweyckx, L Snoeck et al. · Pediatric Research · 1980 · 289 citations

Medicine, Endocrinology, Neurology +8

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

J. Jaeken, H.G. van Eijk, C. Van Der Heul et al. · Clinica Chimica Acta · 1984 · 276 citations

Life Sciences, Genetics, Molecular Genetics +13

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +15