Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
BEFREE |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
Phenylketonurias
|
|
0.020 |
GeneticVariation
|
BEFREE |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
Phenylketonurias
|
|
0.020 |
GeneticVariation
|
BEFREE |
The naturally occurring R68S substitution of phenylalanine hydroxylase (PheH) causes phenylketonuria (PKU).
|
30674554 |
2019 |
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
|
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
|
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
|
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 |
CausalMutation
|
CLINVAR |
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
|
23500595 |
2013 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].
|
23074961 |
2012 |
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
|
21953985 |
2012 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
|
9634518 |
1998 |
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
|
9634518 |
1998 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.
|
10693064 |
1999 |