β-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
- 1 September 1999
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1455 (1) , 54-60
- https://doi.org/10.1016/s0925-4439(99)00078-2
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.Journal of Clinical Investigation, 1998
- Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal PresentationAmerican Journal of Human Genetics, 1998
- A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase DeficiencyBiochemical and Biophysical Research Communications, 1998
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.Journal of Clinical Investigation, 1998
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth SubtypeNeuropediatrics, 1995
- Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.Archives of Disease in Childhood, 1994
- The carbohydrate‐deficient glycoprotein syndromes: An overviewJournal of Inherited Metabolic Disease, 1993
- Carbohydrate-Deficient Glycoprotein (CDG) Syndrome - A New Variant, Type IIINeuropediatrics, 1993
- 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?: 90Pediatric Research, 1980