Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ.

J Inherit Metab Dis. 1999 Jun;22(4):364-73. Review.

PMID:
10407773
2.

Biochemical hallmarks of tyrosine hydroxylase deficiency.

Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF.

Clin Chem. 1998 Sep;44(9):1897-904.

PMID:
9732974
3.

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA.

Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29.

PMID:
20430833
4.

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG.

J Inherit Metab Dis. 2000 Dec;23(8):819-25.

PMID:
11196107
5.

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA.

Clin Chem. 1999 Dec;45(12):2073-8.

PMID:
10585338
6.

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.

Szentiványi K, Hansíková H, Krijt J, Vinšová K, Tesařová M, Rozsypalová E, Klement P, Zeman J, Honzík T.

Prague Med Rep. 2012;113(2):136-46.

PMID:
22691284
7.

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.

Ann Neurol. 2003;54 Suppl 6:S56-65.

PMID:
12891655
8.

Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency.

Furukawa Y, Kish SJ, Fahn S.

Ann Neurol. 2004 Jan;55(1):147-8. No abstract available.

PMID:
14705130
9.

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R.

Mov Disord. 2010 Jun 15;25(8):1086-90. doi: 10.1002/mds.23002.

PMID:
20198643
10.

[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].

Tan D, Zhang Y, Ye J, Han L, Qiu W, Gu X, Zhang H.

Zhonghua Er Ke Za Zhi. 2014 Aug;52(8):616-9. Chinese.

PMID:
25224241
11.

Two Greek siblings with sepiapterin reductase deficiency.

Verbeek MM, Willemsen MA, Wevers RA, Lagerwerf AJ, Abeling NG, Blau N, Thöny B, Vargiami E, Zafeiriou DI.

Mol Genet Metab. 2008 Aug;94(4):403-9. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27.

PMID:
18502672
12.

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

Diepold K, Schütz B, Rostasy K, Wilken B, Hougaard P, Güttler F, Romstad A, Birk Møller L.

Mov Disord. 2005 Jun;20(6):764-7.

PMID:
15747353
13.

Tyrosine hydroxylase deficiency in Taiwanese infants.

Chi CS, Lee HF, Tsai CR.

Pediatr Neurol. 2012 Feb;46(2):77-82. doi: 10.1016/j.pediatrneurol.2011.11.012.

PMID:
22264700
14.

Failure to replicate an association between a rare allele of a tyrosine hydroxylase gene microsatellite and schizophrenia.

Jönsson EG, Geijer T, Gyllander A, Terenius L, Sedvall GC.

Eur Arch Psychiatry Clin Neurosci. 1998;248(2):61-3.

PMID:
9684913
15.

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

Mak CM, Lam CW, Siu TS, Chan KY, Siu WK, Yeung WL, Hui J, Wong VC, Low LC, Ko CH, Fung CW, Chen SP, Yuen YP, Lee HC, Yau E, Chan B, Tong SF, Tam S, Chan YW.

Mol Genet Metab. 2010 Apr;99(4):431-3. doi: 10.1016/j.ymgme.2009.12.011. Epub 2009 Dec 21.

PMID:
20056467
16.

Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.

Lamers KJ, Wevers RA.

Mult Scler. 1998 Feb;4(1):37-8.

PMID:
9532591
17.

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.

Haugarvoll K, Bindoff LA.

J Parkinsons Dis. 2011;1(1):119-22. doi: 10.3233/JPD-2011-11006.

PMID:
23939262
18.

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

Giovanniello T, Claps D, Carducci C, Carducci C, Blau N, Vigevano F, Antonozzi I, Leuzzi V.

J Child Neurol. 2012 Apr;27(4):523-5. doi: 10.1177/0883073811420717. Epub 2011 Sep 22.

PMID:
21940685
19.

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N.

Hum Genet. 1998 Aug;103(2):162-7.

PMID:
9760199
20.

Dopamine-related genes and their relationships to monoamine metabolites in CSF.

Jönsson E, Sedvall G, Brené S, Gustavsson JP, Geijer T, Terenius L, Crocq MA, Lannfelt L, Tylec A, Sokoloff P, Schwartz JC, Wiesel FA.

Biol Psychiatry. 1996 Nov 15;40(10):1032-43.

PMID:
8915563
Items per page

Supplemental Content

Write to the Help Desk