Zobrazeno 1 - 2
of 2
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
Publikováno v:
Clinical Nuclear Medicine; Feb2024, Vol. 49 Issue 2, p80-81, 2p