Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa-Reference-Cited by-同舟云学术

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Published:2020-09 Issue: Volume:24 Page:100629
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Meldau Surita,Fratter Carl,Bhengu Louisa Ntombenhle,Sergeant Kate,Khan Kashief,Riordan Gillian Tracy,Berman Peter Allan Minham

Funder

National Health Laboratory Services Research Trust

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference26 articles.

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3. Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia;Robinson;J. Clin. Invest.,1990

4. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients;Patel;Mol. Genet. Metab.,2012

5. Leigh’s encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue;Willems;Pediatrics,1977

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