✦ LIBER ✦

401 Norman ataxia and carbohydrate-deficient glycoprotein syndrome type 1 (CDGS1): Are they the same disease?

✍ Scribed by I. Pascual-Castroviejo; S.I. Pascual-Pascual; S. Quijano; M. Matel

Book ID: 114361150
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 136 KB
Volume: 3
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(99)91256-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Fine Mapping of the Gene for Carbohydrat

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

✍ Cecilia Bjursell; Helena Stibler; Jan Wahlström; Bengt Kristiansson; Flemming Sk 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 148 KB

Prenatal diagnosis of the carbohydrate-d

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

✍ Joanne Charlwood; Peter Clayton; Geoffrey Keir; Nasi Mian; Elisabeth Young; Brya 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in