Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that affects the Krebs cycle, causes severe neurological impairment and fumaric aciduria. Less than 30 unrelated cases are known to date. In addition, heterozygous mutations of
✦ LIBER ✦
Molecular and biochemical investigations in fumarase deficiency
✍ Scribed by M. Deschauer; Z. Gizatullina; A. Schulze; M. Pritsch; C. Knöppel; M. Knape; S. Zierz; F.N. Gellerich
- Book ID
- 116987816
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 509 KB
- Volume
- 88
- Category
- Article
- ISSN
- 1096-7192
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