Classical phenylketonuria

Known as: Phenylalanine Hydroxylase Deficiency Disease, Severe, Folling's Disease, Phenylketonuria I 
A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria.

Topic mentions per year

Topic mentions per year

1943-2018
05010019432017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
This report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of Europe… (More)
Is this relevant?
Highly Cited
2005
Highly Cited
2005
We participated in the Second International Chinese Word Segmentation Bakeoff. Specifically, we evaluated our Chinese word… (More)
  • table 1
  • table 2
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Fifty-seven 7-14-year-old early- and continuously treated phenylketonuria (PKU) patients and 65 matched controls performed a… (More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding… (More)
  • figure 1
  • table 1
  • table 2
  • table 3
Is this relevant?
Highly Cited
1997
Highly Cited
1997
To begin to study the importance of dopamine for executive function abilities dependent on prefrontal cortex during early… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
We analyzed correlations between mutant genotypes at the human phenylalanine hydroxylase locus (gene symbol PAH) and the… (More)
Is this relevant?
Highly Cited
1993
Highly Cited
1993
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of… (More)
  • figure 2
  • table 2
  • figure 1
  • table 3
  • table 5
Is this relevant?
Highly Cited
1990
Highly Cited
1990
This study explored the hypothesis that children with early-treated phenylketonuria (PKU) are selectively impaired on executive… (More)
Is this relevant?
Highly Cited
1963
Highly Cited
1963
338 PRINCIPLE T HE INHIBITION of growth of Bacillus subtilis ATCC 6051 by B-2-thienylalanine in a minimal culture medium is… (More)
  • table I
  • table II
Is this relevant?