6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
|
27246466 |
2017 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
|
27246466 |
2017 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
|
27830117 |
2016 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of Phenylketonuria: Then and Now.
|
26919687 |
2016 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
|
27629047 |
2016 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
|
25758715 |
2015 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
|
25304915 |
2015 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
|
23942198 |
2014 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
|
23942198 |
2014 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
|
25456745 |
2014 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
|
23138986 |
2013 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
|
23138986 |
2013 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
|
22237589 |
2012 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
|
22237589 |
2012 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
|
21933604 |
2011 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
21542064 |
2011 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
20059486 |
2010 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
20059486 |
2010 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
|
20059486 |
2010 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Disorders of biopterin metabolism.
|
19234759 |
2009 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
|
19280650 |
2009 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].
|
19350512 |
2009 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
|
19280650 |
2009 |