Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency-Reference-Cited by-同舟云学术

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Published:2018-03-25 Issue:5 Volume:176 Page:1115-1127
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Fitzsimons Patricia E.¹^ORCID,Alston Charlotte L.²,Bonnen Penelope E.³,Hughes Joanne⁴,Crushell Ellen⁴,Geraghty Michael T.⁵,Tetreault Martine⁶,O'Reilly Peter⁴,Twomey Eilish⁷,Sheikh Yusra⁷,Walsh Richard¹,Waterham Hans R.⁸,Ferdinandusse Sacha⁸,Wanders Ronald J. A.⁸,Taylor Robert W.²,Pitt James J.⁹,Mayne Philip D.¹

Affiliation:

1. Department of Paediatric Laboratory MedicineTemple Street Children's University HospitalDublin Ireland

2. Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH United Kingdom

3. Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas

4. National Centre for Inherited Metabolic Disorders, Temple Street Children's University HospitalDublin Ireland

5. Children's Hospital of Eastern Ontario Research Institute, University of OttawaOttawa Ontario Canada K1H 8L1

6. Department of Human GeneticsMcGill UniversityMontreal, Québec Canada H3A 1B1

7. Department of RadiologyTemple Street Children's University HospitalDublin Ireland

8. Laboratory Genetic Metabolic Diseases, Department of Clinical ChemistryAcademic Medical CenterAmsterdam The Netherlands

9. Victorian Clinical Genetics Services, Murdoch Children's Research InstituteMelbourne Australia

Funder

National Institute for Health Research

Medical Research Council

Canadian Institutes of Health Research

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38658

Reference39 articles.

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

2. A guide to diagnosis and treatment of Leigh syndrome

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. Cysteamine: an old drug with new potential

5. The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

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