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Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder

Succinate dehydrogenase (SDH) deficiency is a rare autosomal recessive neurometabolic disorder that causes brain insult, neurodevelopmental delay, exercise intolerance, and cardiomyopathy. A 25-month-old boy was referred to our neurometabolic center due to developmental regression after injecting th...

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Detalles Bibliográficos
Autores principales: KARIMZADEH, Parvaneh, KERAMATIPOUR, Mohammad, KARAMZADE, Arezou, POURBAKHTYARAN, Elham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660022/
https://www.ncbi.nlm.nih.gov/pubmed/33193791