×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
27246466
2017
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
27246466
2017
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
GENOMICS_ENGLAND
Genetics of Phenylketonuria: Then and Now.
26919687
2016
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
25758715
2015
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
25304915
2015
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
23942198
2014
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
23942198
2014
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
22237589
2012
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
22237589
2012
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
21933604
2011
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
21542064
2011
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
GeneticVariation
disease
CLINVAR
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
20059486
2010
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
20059486
2010
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
20059486
2010
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
Biomarker
disease
CLINGEN
Disorders of biopterin metabolism.
19234759
2009
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.900
CausalMutation
disease
CLINVAR
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].
19350512
2009
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
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