MRI findings in succinic semialdehyde dehydrogenase deficiency.
Yalçinkaya
C
C
Gibson
K M
KM
Gündüz
E
E
Koçer
N
N
Fiçicioğlu
C
C
Küçükercan
I
I
D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D002529:Cerebellar Nuclei / Q000473:pathology; D002648:Child; D003241:Consanguinity; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D050644:Succinate-Semialdehyde Dehydrogenase
D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase