Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
de Almeida
I T
IT
Centro de Metabolismos e Genética (INIC)-Faculdade de Farmácia, Lisboa, Portugal.
Leandro
P P
PP
Portela
R
R
Cabral
A
A
Eusébio
F
F
Tasso
T
T
Matasovic
A
A
Blau
N
N
D000293:Adolescent; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000652:urine; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000517:prevention & control; D011174:Portugal / Q000453:epidemiology; D011622:Pterins / Q000134:cerebrospinal fluid / Q000652:urine
D011622:Pterins; D001708:Biopterins; D010649:Phenylalanine; D006897:Hydroxyindoleacetic Acid; C003402:sapropterin; D006719:Homovanillic Acid