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ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings

✍ Scribed by Riess, Suzi; Reddihough, Dinah Susan; Howell, Katherine Brooke; Dagia, Charuta; Jaeken, Jaak; Matthijs, Gert; Yaplito-Lee, Joy


Book ID
123414140
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
479 KB
Volume
110
Category
Article
ISSN
1096-7192

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CDG-Id in two siblings with partially di
✍ Christian Kranz; Liangwu Sun; Erik A. Eklund; Donna Krasnewich; Janet R. Casey; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB

## Abstract We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impair