✦ LIBER ✦

Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

✍ Scribed by A.B. Lämmer; B. Rolinski; U. Ahting; D. Heuss

Book ID: 119304095
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 117 KB
Volume: 307
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2011.05.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

M.P.4.17 Late onset multiple acyl-CoA de

M.P.4.17 Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) associated with novel ETFDH mutations in two Chinese patients

✍ Z. Pramono; P. Lai; I. Tan; M. Lim; I. Seah; W. Yee 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Mutational hotspots in electron transfer

Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency

✍ Bárbara J. Henriques; Peter Bross; Cláudio M. Gomes 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 781 KB

We have carried out an extensive in silico analysis on 18 disease associated missense mutations found in electron transfer flavoprotein (ETF), and found that mutations fall essentially in two groups, one in which mutations affect protein folding and assembly, and another one in which mutations impai

Novel mutations in ETFDH gene in Chinese

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

✍ Lap-Kay Law; Nelson L.S. Tang; Joannie Hui; Simon L.M. Fung; Jos Ruiter; Ronald 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 276 KB

P.17.10 New ETFDH mutations in a group o

P.17.10 New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD)

✍ Toscano, A.; Barca, E.; Rodolico, C.; Romeo, S.; Ciranni, A.; Aguennouz, M.; Vit 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 46 KB

A Case of Late-onset Riboflavin Responsi

A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene

✍ Zhao, Zhang-Ning; Bao, Meng-Xin; Ma, Gao-Ting; Liu, Xiao-Min; Xu, Wen-Juan; Sun, 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB

Equine biochemical multiple acyl-CoA deh

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis

✍ C.M. Westermann; M.G.M. de Sain-van der Velden; J.H. van der Kolk; R. Berger; I. 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 795 KB