✦ LIBER ✦

D-2-Hydroxyglutaric aciduria and subdural haemorrhage

✍ Scribed by KL Kwong; T Mak; CM Fong; KH Poon; SN Wong; KT So

Book ID: 114813442
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 111 KB
Volume: 91
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.2002.tb03309.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

D-2-Hydroxyglutaric aciduria: Further cl

D-2-Hydroxyglutaric aciduria: Further clinical delineation

✍ M. S. van der Knaap; C. Jakobs; G. F. Hoffmann; M. Duran; A. C. Muntau; S. Schwe 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 124 KB

n-2-Hydroxyglutaric aciduria with absenc

n-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage

✍ X. Wang; C. Jakobs; D. V. Bawle 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 67 KB

Mutations in the d-2-Hydroxyglutarate De

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

✍ Eduard A. Struys; Gajja S. Salomons; Younes Achouri; Emile Van Schaftingen; Salv 📂 Article 📅 2005 🏛 American Society of Human Genetics 🌐 English ⚖ 153 KB

D-2-hydroxyglutaric aciduria: Case repor

D-2-hydroxyglutaric aciduria: Case report and biochemical studies

✍ R. A. Chalmers; A. M. Lawson; R. W. E. Watts; A. S. Tavill; J. P. Kamerling; E. 📂 Article 📅 1980 🏛 Springer 🌐 English ⚖ 393 KB

D-2-hydroxyglutaric aciduria in associat

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

✍ I. S. Talkhani; J. Saklatvala; J. Dwyer 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 142 KB

Mutations in phenotypically mild D-2-hyd

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

✍ Eduard A. Struys; Stanley H. Korman; Gajja S. Salomons; Patricia S. Darmin; Youn 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

## Abstract D‐2‐hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the __D__‐__2__‐__hydroxyglutarate dehydrogenase__ gene as the cause of the severe phenotype of D‐2‐hydroxyglutaric aciduria in two patients. Here, we