Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Knerr
Ina
I
Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.
Gibson
K Michael
KM
Murdoch
Geoffrey
G
Salomons
Gajja S
GS
Jakobs
Cornelis
C
Combs
Susan
S
Pearl
Phillip L
PL
D000293:Adolescent; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000473:pathology*; D003645:Death, Sudden; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D012640:Seizures / Q000235:genetics / Q000473:pathology; D017422:Sequence Analysis, DNA; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D044465:White People; D055815:Young Adult
C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase