Phenylketonuria, an autosomal recessively transmitted disorder of amino acid metabolism,
is caused by a deficiency of hepatic phenylalanine hydroxylase converting phenylalanine to …

In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate
institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment …

Phenylketonuria (PKU), if not detected and treated in newborns, causes severe neurological
dysfunction and cognitive and behavioral deficiencies. Despite the biochemical …

To have more insight into the mechanism of neuronal injury in phenylketonuria (PKU)
patients, gene expression profiles were studied in cell culture of embryonic rat cortical …

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disorder caused by a
deficiency of phenylalanine hydroxylase (PAH), which catalyzes the conversion of …

Transport mechanisms involved in pH homeostasis are relevant for the survival of
Leishmania parasites. The presence of chloride conductive pathways in Leishmania has …

Phenylketonuria (PKU) is a rare inborn error of metabolism. To avoid severe complications
of PKU, including serious brain damage, patients need to follow a very strict diet for their …

Newborn screening for PKU began in 1961 and initial results were reported two years later
by Guthrie and Susi (1963). In the first 2 years, 400,000 infants were tested in 29 states and …