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Items: 1 to 20 of 47

1.

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.

J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):911-916. doi: 10.1515/jpem-2018-0037.

PMID:
30001213
2.

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.

Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M.

Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21.

PMID:
29685341
3.

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.

BMC Med Genet. 2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.

4.

Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy.

Vasquez-Vivar J, Shi Z, Luo K, Thirugnanam K, Tan S.

Redox Biol. 2017 Oct;13:594-599. doi: 10.1016/j.redox.2017.08.002. Epub 2017 Aug 3. Review.

5.

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.

Souza CAA, Alves MRA, Soares RDL, Kanufre VC, Rodrigues VM, Norton RC, Starling ALP, Aguiar MJB.

J Pediatr (Rio J). 2018 Mar - Apr;94(2):170-176. doi: 10.1016/j.jped.2017.04.005. Epub 2017 Aug 9.

6.

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T.

Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032.

PMID:
28158561
7.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M.

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.

8.

A novel role for endothelial tetrahydrobiopterin in mitochondrial redox balance.

Bailey J, Shaw A, Fischer R, Ryan BJ, Kessler BM, McCullagh J, Wade-Martins R, Channon KM, Crabtree MJ.

Free Radic Biol Med. 2017 Mar;104:214-225. doi: 10.1016/j.freeradbiomed.2017.01.012. Epub 2017 Jan 17.

9.

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.

Porta F, Ponzone A, Spada M.

Eur J Paediatr Neurol. 2016 Nov;20(6):839-842. doi: 10.1016/j.ejpn.2016.08.006. Epub 2016 Aug 15.

10.

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

Porta F, Ponzone A, Spada M.

J Pediatr. 2016 Jan;168:236-9.e1. doi: 10.1016/j.jpeds.2015.09.062. Epub 2015 Oct 27.

PMID:
26515614
11.

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

Trefz F, Lichtenberger O, Blau N, Muntau AC, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A.

Mol Genet Metab. 2015 Apr;114(4):564-9. doi: 10.1016/j.ymgme.2015.01.013. Epub 2015 Feb 7.

PMID:
25726095
12.

Short prolactin profile for monitoring treatment in BH4 deficiency.

Porta F, Ponzone A, Spada M.

Eur J Paediatr Neurol. 2015 May;19(3):360-3. doi: 10.1016/j.ejpn.2015.01.010. Epub 2015 Feb 9.

PMID:
25707872
13.

Erythropoietin prevents endothelial dysfunction in GTP-cyclohydrolase I-deficient hph1 mice.

dʼUscio LV, Santhanam AV, Katusic ZS.

J Cardiovasc Pharmacol. 2014 Dec;64(6):514-21. doi: 10.1097/FJC.0000000000000145.

14.

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

Cao YY, Qu YJ, Song F, Zhang T, Bai JL, Jin YW, Wang H.

Mol Genet Metab. 2014 Dec;113(4):261-6. doi: 10.1016/j.ymgme.2014.10.004. Epub 2014 Oct 12.

PMID:
25456745
15.

Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Kecman B, Ugrin M, Zukic B, Desviat LR, Pavlovic S, Perez B.

J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):477-80. doi: 10.1515/jpem-2014-0297.

PMID:
25418970
16.

Infantile hypertrophic pyloric stenosis (IHPS): a study of its pathophysiology utilizing the newborn hph-1 mouse model of the disease.

Welsh C, Shifrin Y, Pan J, Belik J.

Am J Physiol Gastrointest Liver Physiol. 2014 Dec 15;307(12):G1198-206. doi: 10.1152/ajpgi.00221.2014. Epub 2014 Oct 30.

17.

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

Han B, Zou H, Han B, Zhu W, Cao Z, Liu Y.

Brain Dev. 2015 Jun;37(6):592-8. doi: 10.1016/j.braindev.2014.09.008. Epub 2014 Oct 7.

PMID:
25304915
18.

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Gu Y, Lu K, Yang G, Cen Z, Yu L, Lin L, Hao J, Yang Z, Peng J, Cui S, Huang J.

PLoS One. 2014 Apr 4;9(4):e94100. doi: 10.1371/journal.pone.0094100. eCollection 2014.

19.

Pharmacological prevention of eNOS uncoupling.

Li H, Forstermann U.

Curr Pharm Des. 2014;20(22):3595-606. Review.

PMID:
24180386
20.

A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia.

Raeisi M, Mahdieh N, Yousefzadeh A, Vahidi R, Rahimi N, Zeinali S.

Clin Lab. 2013;59(7-8):925-8.

PMID:
24133926

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