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 Article Swipe

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Surita Meldau , Carl Fratter , Louisa Bhengu , Kate Sergeant , Kashief Khan , Gillian Riordan , Peter Berman ·

YOU? · · 2020 · Open Access · · DOI: https://doi.org/10.1016/j.ymgmr.2020.100629

Related Topics

Mitochondrial Disease

Pyruvate Dehydrogenase Complex

Concepts

Mitochondrial disease Pyruvate dehydrogenase complex Genetics Lactic acidosis Medicine Population Disease Mutation Biology Mitochondrial DNA Frameshift mutation Newborn screening Genetic testing Gene Internal medicine Enzyme Environmental health Biochemistry

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.ymgmr.2020.100629
OA Status: gold
Cited By: 10
References: 27
Related Works: 10
OpenAlex ID: https://openalex.org/W3044116358

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DOI: https://doi.org/10.1016/j.ymgmr.2020.100629

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Title: 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

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Type: article

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Language: en

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Publication year: 2020

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Publication date: 2020-07-22

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Authors: Surita Meldau, Carl Fratter, Louisa Bhengu, Kate Sergeant, Kashief Khan, Gillian Riordan, Peter Berman

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Landing page: https://doi.org/10.1016/j.ymgmr.2020.100629

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Concepts: Mitochondrial disease, Pyruvate dehydrogenase complex, Genetics, Lactic acidosis, Medicine, Population, Disease, Mutation, Biology, Mitochondrial DNA, Frameshift mutation, Newborn screening, Genetic testing, Gene, Internal medicine, Enzyme, Environmental health, Biochemistry

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Cited by: 10

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