×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
8406445
1993
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
9399896
1997
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Mutation analysis anticipates dietary requirements in phenylketonuria.
11043162
2000
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
11328945
2001
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.
11581453
2001
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.
14760268
2004
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
15171997
2004
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.
15665165
2005
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.
17410469
2007
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
The PAH gene, phenylketonuria, and a paradigm shift.
17443661
2007
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
17935162
2008
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Phenylketonuria: an inborn error of phenylalanine metabolism.
18566668
2008
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
20188615
2010
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.
22965559
2013
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
23514811
2013
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Mutation analysis in hyperphenylalaninemia patients from South Italy.
23792259
2013
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Overgrowth
0.100
CausalMutation
CLINVAR
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
25596310
2015