𝔖 Bobbio Scriptorium
✦   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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Clinical and biochemical heterogeneity a
✍ Chris Ottolenghi; Laurence Hubert; Yannick Allanore; Anais Brassier; Cécilia Alt 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 296 KB

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

Biochemical and molecular correlations i
✍ Georgirene D. Vladutiu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu