Zobrazeno 1 - 1
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pro vyhledávání: '"Kelsey R. Casano, MD"'
Publikováno v:
Radiology Case Reports, Vol 16, Iss 4, Pp 807-810 (2021)
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 sig
Externí odkaz:
https://doaj.org/article/104b4b35162b402ead674a94050ac5e6
