Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Open Access
- 1 January 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (1), 73-76
- https://doi.org/10.1136/jmg.34.1.73
Abstract
No abstract availableThis publication has 28 references indexed in Scilit:
- Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemiaEuropean Journal of Pediatrics, 1996
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth SubtypeNeuropediatrics, 1995
- Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndromeActa Paediatrica, 1995
- Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.Archives of Disease in Childhood, 1995
- Enzymes Involved in the Synthesis of Mannose-6-phosphate from Glucose Are Normal in Carbohydrate Deficient Glycoprotein Syndrome FibroblastsBiochemical and Biophysical Research Communications, 1995
- Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?Journal of Clinical Investigation, 1994
- Carbohydrate‐deficient glycoprotein syndrome with previously unreported featuresActa Paediatrica, 1994
- Carbohydrate-Deficient Glycoprotein (CDG) Syndrome - A New Variant, Type IIINeuropediatrics, 1993
- AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINSThe Lancet, 1987