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