✦ LIBER ✦

Perinatal and early infantile symptoms in congenital disorders of glycosylation

✍ Scribed by Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortmann, Saskia B.; Korsch, Eckhard; Adamowicz, Maciej; Al-Gazali, Lihadh; Wevers, Ron A.; Horvath, Adrienne; Lefeber, Dirk J.; Morava, Éva

Book ID: 120372958
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 290 KB
Volume: 161
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35702

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to perinatal and early infantile

Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584

✍ Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortman 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB

Therapies and therapeutic approaches in

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

✍ Christian Thiel, Christian Körner 📂 Article 📅 2012 🏛 Springer US 🌐 English ⚖ 321 KB

IGF system in children with congenital d

IGF system in children with congenital disorders of glycosylation

✍ Bradley S. Miller; M. Javad Khosravi; Marc C. Patterson; Cheryl A. Conover 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

Hyperinsulinaemic hypoglycaemia—Leading

Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)

✍ H. Böhles; A.C. Sewell; B. Gebhardt; A. Reinecke-Lüthge; G. Klöppel; T. Marquard 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 58 KB

Mutations in STT3A and STT3B cause two c

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

✍ Shrimal, S.; Ng, B. G.; Losfeld, M.-E.; Gilmore, R.; Freeze, H. H. 📂 Article 📅 2013 🏛 Oxford University Press 🌐 English ⚖ 537 KB

Congenital disorder of glycosylation typ

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult

✍ Kerrie L. Schoffer; John D. O'Sullivan; Jim McGill 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

## Abstract Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early‐onset cerebellar ata