Genotype-phenotype correlation in dihydropteridine reductase deficiency.
de Sanctis
L
L
Department of Pediatric Sciences, University of Torino, Italy.
Alliaudi
C
C
Spada
M
M
Farrugia
R
R
Cerone
R
R
Biasucci
G
G
Meli
C
C
Zammarchi
E
E
Coskun
T
T
Blau
N
N
Ponzone
A
A
Dianzani
I
I
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000503:physiopathology; D004093:Dihydropteridine Reductase / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias
D010649:Phenylalanine; D004093:Dihydropteridine Reductase