Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Blasi
P
P
Palmerio
F
F
Caldarola
S
S
Rizzo
C
C
Carrozzo
R
R
Gibson
K M
KM
Novelletto
A
A
Deodato
F
F
Cappa
M
M
Dioni-Vici
C
C
Malaspina
P
P
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics*
D004247:DNA; D050644:Succinate-Semialdehyde Dehydrogenase