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MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, particu...

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Detalles Bibliográficos
Autores principales:	Casano, Kelsey R., Ryan, Maura E., Bicknese, Alma R., Mithal, Divakar S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846898/ https://www.ncbi.nlm.nih.gov/pubmed/33552330 http://dx.doi.org/10.1016/j.radcr.2021.01.021

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