Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency-Reference-Cited by-同舟云学术

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

Published:2019-03-07 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Shayota Brian J.¹²^ORCID,Soler‐Alfonso Claudia¹²^ORCID,Bekheirnia Mir Reza¹²³,Mizerik Elizabeth¹²,Boyer Suzy W.¹²,Xiao Rui¹⁴,Yang Yaping¹⁴,Elsea Sarah H.¹⁴^ORCID,Scaglia Fernando¹²⁵

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

2. Texas Children's Hospital Houston Texas

3. Department of PediatricsRenal Section, Baylor College of Medicine Houston Texas

4. Baylor Genetics Houston Texas

5. BCM‐CUHK Center of Medical Genetics, Prince of Wales Hospital Sha Tin Hong Kong SAR

Funder

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61074

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