ECHS1 deficiency and its biochemical and clinical phenotype-Reference-Cited by-同舟云学术

ECHS1 deficiency and its biochemical and clinical phenotype

Published:2022-07-20 Issue:10 Volume:188 Page:2908-2919
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ozlu Can¹^ORCID,Chelliah Priya²,Dahshi Hamza¹,Horton Daniel³⁴,Edgar Veronica B.¹³⁴,Messahel Souad⁵,Kayani Saima¹³

Affiliation:

1. Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas United States

2. University of Texas Southwestern School of Medicine Dallas Texas United States

3. Children's Health Dallas Texas United States

4. Department of Psychiatry University of Texas Southwestern Medical Center Dallas Texas United States

5. Perot Foundation Neuroscience Translational Research Center Peter O'Donnell Jr. Brain Institute, UT Southwestern Medical Center Dallas Texas United States

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62895

Reference31 articles.

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

2. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

3. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

4. Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

5. Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

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