Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease

Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly prog...

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Detalles Bibliográficos
Autores principales: Jauhari, Prashant, Sankhyan, Naveen, Vyas, Sameer, Singhi, Pratibha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696666/
https://www.ncbi.nlm.nih.gov/pubmed/29204204
http://dx.doi.org/10.4103/jpn.JPN_191_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696666/
https://www.ncbi.nlm.nih.gov/pubmed/29204204
http://dx.doi.org/10.4103/jpn.JPN_191_16

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