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Items: 1 to 20 of 324

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Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.

Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.

Mol Genet Metab. 2007 Mar;90(3):277-83. Epub 2006 Dec 22.

PMID:
17188538
4.
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[Biopterin and child neurologic disease].

Shintaku H.

No To Hattatsu. 2009 Jan;41(1):5-10. Review. Japanese.

PMID:
19172809
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8.

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2.

PMID:
16650784
9.

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

Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B.

Hum Mutat. 2000;16(1):54-60.

PMID:
10874306
10.

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

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N.

Hum Mutat. 1997;10(1):25-35.

PMID:
9222757
11.

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.

Ayling JE, Bailey SW, Boerth SR, Giugliani R, Braegger CP, Thöny B, Blau N.

Mol Genet Metab. 2000 Jul;70(3):179-88.

PMID:
10924272
12.

Disorders of tetrahydrobiopterin metabolism and their treatment.

Shintaku H.

Curr Drug Metab. 2002 Apr;3(2):123-31. Review.

PMID:
12003346
14.

Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.

Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.

Chin Med J (Engl). 2002 Feb;115(2):217-21. Erratum in: Chin Med J (Engl) 2002 Jun;115(6):809.

PMID:
11940335
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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.

17.

BH4-sensitive hyperphenylalaninemia: new case and review of literature.

Lücke T, Illsinger S, Aulehla-Scholz C, Sander J, Das AM.

Pediatr Neurol. 2003 Mar;28(3):228-30. Review.

PMID:
12770680
18.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K.

J Pediatr. 1999 Sep;135(3):375-8.

PMID:
10484807
19.

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

Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM.

Hum Mutat. 1998;11(1):76-83.

PMID:
9450907
20.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Spaapen LJ, Rubio-Gozalbo ME.

Mol Genet Metab. 2003 Feb;78(2):93-9. Review.

PMID:
12618080

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