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Items: 1 to 20 of 21

1.

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
2.

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
3.

Molecular genetics of dopa-responsive dystonia.

Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.

Biol Chem. 1999 Dec;380(12):1355-64. Review.

PMID:
10661862
4.

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.

Neurology. 2004 Apr 13;62(7):1058-65. Review.

PMID:
15079002
5.

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Bräutigam C, Rizzo C, Steebergen-Spanjers GC, Smeitink JA, Wevers RA.

J Pediatr. 2000 Apr;136(4):560-2. Review.

PMID:
10753262
6.

Tyrosine hydroxylase and Parkinson's disease.

Haavik J, Toska K.

Mol Neurobiol. 1998 Jun;16(3):285-309. Review.

PMID:
9626667
7.

Genes for human catecholamine-synthesizing enzymes.

Nagatsu T.

Neurosci Res. 1991 Oct;12(2):315-45. Review.

PMID:
1684650
8.

Effects on the diet on brain neurotransmitters.

Fernstrom JD.

Metabolism. 1977 Feb;26(2):207-23. Review.

PMID:
13261
9.

[Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene].

Rondot P, Wevers RA.

Bull Acad Natl Med. 1999;183(3):639-46; discussion 646-7. Review. French.

PMID:
10437291
10.

Molecular genetics of tyrosine 3-monooxygenase and inherited diseases.

Kobayashi K, Nagatsu T.

Biochem Biophys Res Commun. 2005 Dec 9;338(1):267-70. Epub 2005 Aug 10. Review.

PMID:
16105653
11.

Dopa-responsive dystonia -- the story so far.

Bandmann O, Wood NW.

Neuropediatrics. 2002 Feb;33(1):1-5. Review.

PMID:
11930268
12.
13.

Cerebrospinal fluid investigations for neurometabolic disorders.

Hoffmann GF, Surtees RA, Wevers RA.

Neuropediatrics. 1998 Apr;29(2):59-71. Review.

PMID:
9638660
14.

Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Nagatsu T, Ichinose H.

Mol Neurobiol. 1999 Feb;19(1):79-96. Review.

PMID:
10321973
15.

[Molecular biology of hereditary dystonia].

Nagatsu T, Ichinose H.

No To Hattatsu. 1998 Mar;30(2):93-100. Review. Japanese.

PMID:
9545771
16.

Segawa's disease: dopa-responsive dystonia.

Gordon N.

Int J Clin Pract. 2008 Jun;62(6):943-6. Epub 2007 Oct 29. Review.

PMID:
17971156
17.

Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

García-Cazorla A, Ortez C, Pérez-Dueñas B, Serrano M, Pineda M, Campistol J, Fernández-Álvarez E.

Eur J Paediatr Neurol. 2011 Jul;15(4):295-302. doi: 10.1016/j.ejpn.2011.04.013. Epub 2011 May 25. Review.

PMID:
21612960
18.

Serine-deficiency syndromes.

de Koning TJ, Klomp LW.

Curr Opin Neurol. 2004 Apr;17(2):197-204. Review.

PMID:
15021249
19.

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.

Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N.

Neuropediatrics. 2013 Oct;44(5):281-5. doi: 10.1055/s-0033-1338133. Epub 2013 Apr 6. Review.

PMID:
23564319
20.

Clinical Use of CSF Neurotransmitters.

Rodan LH, Gibson KM, Pearl PL.

Pediatr Neurol. 2015 Oct;53(4):277-86. doi: 10.1016/j.pediatrneurol.2015.04.016. Epub 2015 Jun 11. Review.

PMID:
26194033

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