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Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.
Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Blau N, et al. Mol Genet Metab. 2011;104 Suppl:S2-9. doi: 10.1016/j.ymgme.2011.08.017. Epub 2011 Aug 26. Mol Genet Metab. 2011. PMID: 21937252 Free article. Review.
This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hyperphenylalaninemia, including tetrahydrobiopterin (BH4) deficiency. ...Results of the workshop demonstrate that follow …
This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hy …
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
Li N, Yu P, Rao B, Deng Y, Guo Y, Huang Y, Ding L, Zhu J, Yang H, Wang J, Guo J, Chen F, Liu Z. Li N, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):911-916. doi: 10.1515/jpem-2018-0037. J Pediatr Endocrinol Metab. 2018. PMID: 30001213
Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) deficiency accounting for 8.55% of patients with HPA in the mainland. ...Methods A total of 44 BH4-deficient patients were enrolled in …
Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) defici
Tetrahydrobiopterin: biochemistry and pathophysiology.
Werner ER, Blau N, Thöny B. Werner ER, et al. Biochem J. 2011 Sep 15;438(3):397-414. doi: 10.1042/BJ20110293. Biochem J. 2011. PMID: 21867484 Review.
BH4 (6R-L-erythro-5,6,7,8-tetrahydrobiopterin) is an essential cofactor of a set of enzymes that are of central metabolic importance, including four aromatic amino acid hydroxylases, alkylglycerol mono-oxygenase and three NOS (NO synthase) isoenzymes. ...BH4
BH4 (6R-L-erythro-5,6,7,8-tetrahydrobiopterin) is an essential cofactor of a set of enzymes that are of central metabolic impo
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
Wasim M, Awan FR, Khan HN, Ayesha H. Wasim M, et al. Crit Rev Eukaryot Gene Expr. 2018;28(2):177-185. doi: 10.1615/CritRevEukaryotGeneExpr.2018023073. Crit Rev Eukaryot Gene Expr. 2018. PMID: 30055544 Review.
Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. ...It may be caused by defic
Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes …
Site and mechanism of uncoupling of nitric-oxide synthase: Uncoupling by monomerization and other misconceptions.
Gebhart V, Reiß K, Kollau A, Mayer B, Gorren ACF. Gebhart V, et al. Nitric Oxide. 2019 Aug 1;89:14-21. doi: 10.1016/j.niox.2019.04.007. Epub 2019 Apr 22. Nitric Oxide. 2019. PMID: 31022534 Free article.
The NOS cofactor tetrahydrobiopterin (BH4) is indispensable for coupled catalysis. In the case of uncoupling at the heme this is explained by the essential role of BH4 as an electron donor to the oxyferrous complex; in the case of uncoupling at the flavins it …
The NOS cofactor tetrahydrobiopterin (BH4) is indispensable for coupled catalysis. In the case of uncoupling at the heme this …
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
Therefore, tetrahydrobiopterin deficiency results in hyperphenylalaninemia as well as dopamine and serotonin depletion in the central nervous system. The enzyme 6-pyruvoyltetrahydropterin synthase catalyzes the second step of de novo synthesis of tetrahydrobiopte
Therefore, tetrahydrobiopterin deficiency results in hyperphenylalaninemia as well as dopamine and serotonin depletion in the …
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L. Jiang X, et al. Metabolism. 2019 May;94:96-104. doi: 10.1016/j.metabol.2019.02.001. Epub 2019 Feb 10. Metabolism. 2019. PMID: 30742839
BACKGROUND: GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. ...This is the first GTPCH defic
BACKGROUND: GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic dis …
Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
Wang X, He Y, Jiang Y, Feng X, Zhang G, Xia Z, Zhou Y. Wang X, et al. Clin Chim Acta. 2019 Nov;498:161-166. doi: 10.1016/j.cca.2019.08.021. Epub 2019 Aug 22. Clin Chim Acta. 2019. PMID: 31445982
Of these HPA patients, 15 tested positive for phenylketonuria (PKU, 1:27922), and 4 tested positive for tetrahydrobiopterin deficiency (BH4D, 1:104,708). ...
Of these HPA patients, 15 tested positive for phenylketonuria (PKU, 1:27922), and 4 tested positive for tetrahydrobiopterin defici
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Eichinger A, Danecka MK, Möglich T, Borsch J, Woidy M, Büttner L, Muntau AC, Gersting SW. Eichinger A, et al. Hum Mol Genet. 2018 May 15;27(10):1732-1742. doi: 10.1093/hmg/ddy079. Hum Mol Genet. 2018. PMID: 29514280
The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH4). ...Here, we report secondary hepatic BH4 deficiency in Pa …
The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase …
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap P, Ittiwut C, Srichomthong C, Sangsin A, Suphapeetiporn K, Shotelersuk V. Chaiyasap P, et al. BMC Med Genet. 2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x. BMC Med Genet. 2017. PMID: 28915855 Free PMC article.
BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosy …
BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydro …
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