Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
- 24 September 1999
- journal article
- review article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1455 (2-3) , 155-165
- https://doi.org/10.1016/s0925-4439(99)00073-3
Abstract
No abstract availableKeywords
This publication has 88 references indexed in Scilit:
- The Birth and Infancy of a New Disease: The Carbohydrate-Deficient Glycoprotein SyndromePublished by S. Karger AG ,2015
- Chapter 16a Carbohydrate-deficient glycoprotein syndromePublished by Elsevier ,1996
- The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylationBiochemical Society Transactions, 1995
- Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disordersPediatric Neurology, 1993
- Biological roles of oligosaccharides: all of the theories are correctGlycobiology, 1993
- Structures and functions of the sugar chains of glycoproteinsEuropean Journal of Biochemistry, 1992
- GLYCOBIOLOGYAnnual Review of Biochemistry, 1988
- ASSEMBLY OF ASPARAGINE-LINKED OLIGOSACCHARIDESAnnual Review of Biochemistry, 1985
- 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