7,8-dihydrobiopterin synthetase

The possibility of an early diagnosis of tetrahydrobiopterin deficiency among hyperphenylalaninemic infants, when specific… (More)

Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin… (More)

Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4… (More)

In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the… (More)

Tetrahydrobiopterin (BH4) deficiency has been described as a form of hyperphenylalaninaemia in which severe neurological symptoms… (More)

Total urinary biopterin (B), neopterin (Ne) and monapterin (M) were measured in 25 healthy newborns, children and adults, in 49… (More)