Condition: 6-pyruvoyl-tetrahydropterin synthase deficiency


rs104894273 in PTS gene and 6-pyruvoyl-tetrahydropterin synthase deficiency PMID 9159737 1997 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.

PMID 10874306 2000 Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

PMID 8707300 1996 Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

PMID 7493990 1995 Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.

PMID 11388593 2001 Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

PMID 7698774 1994 A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

PMID 8178819 1994 Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

PMID 9222757 1997 Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

PMID 9450907 1998 Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

PMID 10531334 1999 Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.

PMID 10220141 1999 Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

PMID 10585341 1999 Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.

PMID 17160954 2006 [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].

PMID 27246466 2017 Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

PMID 22237589 2012 Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

PMID 11694255 2001 Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

PMID 11438997 2001 Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

PMID 20059486 2010 Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

PMID 19350512 2009 [Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].

PMID 21933604 2011 Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10319579 1999 Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.

PMID 23138986 2013 Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

PMID 23942198 2014 Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

PMID 25304915 2015 Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.

PMID 25456745 2014 Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

PMID 18505119 2008 [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].

PMID 11916314 2001 Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 16917893 2006 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

PMID 19280650 2009 Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

PMID 3297709 1987 """Peripheral"" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity."