A Partial Deficiency of Dehydrodolichol Reduction Is a Cause of Carbohydrate-deficient Glycoprotein Syndrome Type I
Open Access
- 1 March 1997
- journal article
- Published by Elsevier
- Vol. 272 (11), 6868-6875
- https://doi.org/10.1074/jbc.272.11.6868
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.Journal of Clinical Investigation, 1996
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Electrospray Ionization-Mass Spectrometric Analysis of Serum Transferrin Isoforms in Patients with Carbohydrate-Deficient Glysoprotein Syndrome1The Journal of Biochemistry, 1993
- The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?Glycobiology, 1993
- Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disordersPediatric Neurology, 1993
- Structure of serum transferrin in carbohydrate-deficient glycoprotein syndromeBiochemical and Biophysical Research Communications, 1992
- Biochemical Characteristics and Diagnosis of the Carbohydrate‐deficient Glycoprotein SyndromeActa Paediatrica, 1991
- Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.Archives of Disease in Childhood, 1990
- Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndromeClinica Chimica Acta; International Journal of Clinical Chemistry, 1984
- 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