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

Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration. Although the PDHA1 gene is implicated in most cases of PDHC deficiency...

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Detalles Bibliográficos
Autores principales: Meldau, Surita, Fratter, Carl, Bhengu, Louisa Ntombenhle, Sergeant, Kate, Khan, Kashief, Riordan, Gillian Tracy, Berman, Peter Allan Minham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387837/
https://www.ncbi.nlm.nih.gov/pubmed/32742935
http://dx.doi.org/10.1016/j.ymgmr.2020.100629

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