Concepedia

β-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

Stephanie Grünewald, Karin M.L.C. Huyben, J.G.N. de Jong, Jan A. M. Smeitink, Estella Rubio, Godfried H.J. Boers, Harald S. Conradt, U. Wendel, Ron A. Wevers

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1999 · 29 citations · 29 references

DOI

Concepts

References

29

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 428 citations · Full text

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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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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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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

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