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

Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean‐Jacques Cassiman, Jaak Jaeken

The American Journal of Human Genetics · 1998 · 151 citations · 22 references

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References

22

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

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

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

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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

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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

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Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Jaak Jaeken, Harry Schachter, Hubert Carchon et al. · Archives of Disease in Childhood · 1994 · 192 citations · Full text

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