CDG nomenclature: Time for a change!
- 1 September 2009
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1792 (9) , 825-826
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- On the nomenclature of congenital disorders of glycosylation (CDG)Journal of Inherited Metabolic Disease, 2008
- Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of GlycosylationMolecular Genetics and Metabolism, 2008
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Nature Genetics, 2007
- A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I DeficiencyThe American Journal of Human Genetics, 2000
- Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)Nature Genetics, 1997
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.Archives of Disease in Childhood, 1994
- A new variant of the carbohydrate deficient glycoproteins syndromeJournal of Inherited Metabolic Disease, 1991
- Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndromeClinica Chimica Acta, 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