A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece.
Schulpis
K H
KH
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Covanis
A
A
Loumakou
M
M
Frantzis
N
N
Papandreou
O
O
Divolli
A
A
Missiou-Tsagaraki
S
S
Kierat
L
L
Blau
N
N
D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D005260:Female; D006115:Greece; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D019761:Phosphorus-Oxygen Lyases
D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase