A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency-Reference-Cited by-同舟云学术

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency

Published:2016-11-30 Issue:4 Volume:91 Page:629-633
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Al Mutairi F.¹,Shamseldin H.E.²,Alfadhel M.¹,Rodenburg R.J.³,Alkuraya F.S.²⁴

Affiliation:

1. King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetic Division, Department of Pediatrics; King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA); Riyadh Saudi Arabia

2. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

3. Radboud Center for Mitochondrial Medicine Translational Metabolic Laboratory, Department of Pediatrics; Radboud University Medical Center; Nijmegen the Netherlands

4. Department of Anatomy and Cell Biology, College of Medicine; Alfaisal University; Riyadh Saudi Arabia

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12891/fullpdf

Reference13 articles.

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3. Enzymatic reaction of crotonyl coenzyme A;Stern;J Am Chem Soc,1953

4. Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues;Fong;J Biol Chem,1977

5. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway;Wanders;J Inherit Metab Dis,2012

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