|
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Molecular basis of phenylketonuria in Cuba.
|
11524738 |
2001 |
|
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
|
26666653 |
2015 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
|
9950317 |
1999 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
|
11678552 |
2001 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
|
17935162 |
2008 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
|
15557004 |
2004 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
|
1355066 |
1992 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
|
16143554 |
2005 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
|
22841515 |
2012 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Response of phenylketonuria to tetrahydrobiopterin.
|
17513426 |
2007 |
|
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
|
23764561 |
2013 |
|
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
|
23514811 |
2013 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Phenylketonuria.
|
21915151 |
2012 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
|
24667081 |
2014 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
|
12655553 |
2003 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
|
24350308 |
2013 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
|
15464430 |
2005 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
|
23430918 |
2012 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
|
19609714 |
2009 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
|
9101291 |
1997 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a new missense mutation in Japanese phenylketonuric patients.
|
8068076 |
1993 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
|
9792407 |
1998 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
BEFREE |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
|
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
|
12501224 |
2002 |