Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features-Reference-Cited by-同舟云学术

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

Published:2017 Issue: Volume: Page:63-69
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Conboy Erin,Vairo Filippo,Schultz Matthew,Agre Katherine,Ridsdale Ross,Deyle David,Oglesbee Devin,Gavrilov Dimitar,Klee Eric W.,Lanpher Brendan

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_59

Reference17 articles.

1. Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249

2. Aledo R et al (2001) Genetic basis of mitochondrial HMG-CoA synthase deficiency. Hum Genet 109(1):19–23

3. Aledo R et al (2006) Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency. J Inherit Metab Dis 29(1):207–211

4. Fukao T et al (2014) Ketone body metabolism and its defects. J Inherit Metab Dis 37(4):541–551

5. Jagadeesh KA et al (2016) M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet 48(12):1581–1586

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