𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

✍ Scribed by Shigeo Kure; Kanako Kojima; Akiko Ichinohe; Tomoki Maeda; Rozalia Kalmanchey; György Fekete; Suzan Z. Berg; Jim Filiano; Yoko Aoki; Yoichi Suzuki; Tatsuro Izumi; Yoichi Matsubara


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
327 KB
Volume
52
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Comprehensive mutation analysis of GLDC,
✍ Shigeo Kure; Kumi Kato; Agirios Dinopoulos; Chuck Gail; Ton J. deGrauw; John Chr 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB

Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by GLDC, AMT, and GCSH. We under