Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.
Ponzone
A
A
Department of Paediatrics, University of Turin, Torino, Italy.
Blau
N
N
Guardamagna
O
O
Ferrero
G B
GB
Dianzani
I
I
Endres
W
W
D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D001708:Biopterins / Q000134:cerebrospinal fluid; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D007231:Infant, Newborn; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D019761:Phosphorus-Oxygen Lyases; D011622:Pterins / Q000627:therapeutic use / Q000652:urine
D011622:Pterins; C011552:tetrahydropterin; D001708:Biopterins; D010649:Phenylalanine; D006897:Hydroxyindoleacetic Acid; D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; D006719:Homovanillic Acid