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Results: 1 to 20 of 48

1.

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

Ye J, Yang Y, Yu W, Zou H, Jiang J, Yang R, Shang S, Gu X.

J Inherit Metab Dis. 2013 Sep;36(5):893-901. doi: 10.1007/s10545-012-9550-6. Epub 2012 Nov 9.

PMID:
23138986
[PubMed - indexed for MEDLINE]
2.

Commentary on the mutation spectrum of and founder effects affecting the PTS gene in East-Asian populations.

Shintaku H.

J Hum Genet. 2012 Mar;57(3):159-60. doi: 10.1038/jhg.2011.153. Epub 2012 Feb 16. No abstract available.

PMID:
22336887
[PubMed - indexed for MEDLINE]
3.

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

Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT.

J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12.

PMID:
22237589
[PubMed - indexed for MEDLINE]
4.

Tetrahydrobiopterin: biochemistry and pathophysiology.

Werner ER, Blau N, Thöny B.

Biochem J. 2011 Sep 15;438(3):397-414. doi: 10.1042/BJ20110293. Review.

PMID:
21867484
[PubMed - indexed for MEDLINE]
5.

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Brasil S, Viecelli HM, Meili D, Rassi A, Desviat LR, Pérez B, Ugarte M, Thöny B.

Hum Mutat. 2011 Sep;32(9):1019-27. doi: 10.1002/humu.21529. Epub 2011 Aug 4.

PMID:
21542064
[PubMed - indexed for MEDLINE]
6.

Mechanisms of resistance to bacteriocins targeting the mannose phosphotransferase system.

Kjos M, Nes IF, Diep DB.

Appl Environ Microbiol. 2011 May;77(10):3335-42. doi: 10.1128/AEM.02602-10. Epub 2011 Mar 18.

PMID:
21421780
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals.

Sumi-Ichinose C, Ichinose H, Ikemoto K, Nomura T, Kondo K.

J Pharmacol Sci. 2010;114(1):17-24. Epub 2010 Aug 12. Review.

PMID:
20716859
[PubMed - indexed for MEDLINE]
Free Article
8.

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

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.

Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3.

PMID:
20059486
[PubMed - indexed for MEDLINE]
9.

Detection of phenylketonuria by the newborn screening program in Thailand.

Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S.

Southeast Asian J Trop Med Public Health. 2009 May;40(3):525-9.

PMID:
19842439
[PubMed - indexed for MEDLINE]
10.

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S279-82. doi: 10.1007/s10545-009-1221-x. Epub 2009 Oct 13. Review.

PMID:
19830588
[PubMed - indexed for MEDLINE]
11.

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

Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I.

Hum Mutat. 2009 May;30(5):823-31. doi: 10.1002/humu.20969.

PMID:
19280650
[PubMed - indexed for MEDLINE]
12.

6-Pyruvoyltetrahydropterin synthase orthologs of either a single or dual domain structure are responsible for tetrahydrobiopterin synthesis in bacteria.

Kong JS, Kang JY, Kim HL, Kwon OS, Lee KH, Park YS.

FEBS Lett. 2006 Sep 4;580(20):4900-4. Epub 2006 Aug 14.

PMID:
16920111
[PubMed - indexed for MEDLINE]
Free Article
13.

6-pyruvoyltetrahydropterin synthase deficiency two-case report.

Pangkanon S, Charoensiriwatanamsc W, Liamsuwanmd S.

J Med Assoc Thai. 2006 Jun;89(6):872-7.

PMID:
16850690
[PubMed - indexed for MEDLINE]
14.

Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Wang L, Yu WM, He C, Chang M, Shen M, Zhou Z, Zhang Z, Shen S, Liu TT, Hsiao KJ.

J Inherit Metab Dis. 2006 Feb;29(1):127-34.

PMID:
16601879
[PubMed - indexed for MEDLINE]
15.

Functional role of sepiapterin reductase in the biosynthesis of tetrahydropteridines in Dictyostelium discoideum Ax2.

Choi YK, Kong JS, Park YS.

Biochim Biophys Acta. 2006 Jun;1760(6):877-82. Epub 2005 Dec 27.

PMID:
16527408
[PubMed - indexed for MEDLINE]
Free Article
16.

Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.

Sumi-Ichinose C, Urano F, Shimomura A, Sato T, Ikemoto K, Shiraishi H, Senda T, Ichinose H, Nomura T.

J Neurochem. 2005 Nov;95(3):703-14. Epub 2005 Aug 31.

PMID:
16135092
[PubMed - indexed for MEDLINE]
17.

Activity of synthetic enzymes of tetrahydrobiopterin in the human placenta.

Iwanaga N, Yamamasu S, Tachibana D, Nishio J, Nakai Y, Shintaku H, Ishiko O.

Int J Mol Med. 2004 Jan;13(1):117-20.

PMID:
14654981
[PubMed - indexed for MEDLINE]
18.

Dystonia: phenotypes and genotypes.

Bressman SB.

Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):849-56. Review.

PMID:
14628853
[PubMed - indexed for MEDLINE]
19.

Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase.

Franscini N, Blau N, Walter RB, Schaffner A, Schoedon G.

Arterioscler Thromb Vasc Biol. 2003 Nov 1;23(11):e50-3. Epub 2003 Oct 9.

PMID:
14551150
[PubMed - indexed for MEDLINE]
Free Article
20.

Escherichia coli 6-pyruvoyltetrahydropterin synthase ortholog encoded by ygcM has a new catalytic activity for conversion of sepiapterin to 7,8-dihydropterin.

Woo HJ, Hwang YK, Kim YJ, Kang JY, Choi YK, Kim CG, Park YS.

FEBS Lett. 2002 Jul 17;523(1-3):234-8.

PMID:
12123838
[PubMed - indexed for MEDLINE]
Free Article

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