Hoffmann GF - Search Results

1

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: hoffmann gf. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

2

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Among authors: hoffmann gf. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

3

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. Wevers RA, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

4

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. Willemsen MA, et al. Among authors: hoffmann gf. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.

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. Bräutigam C, et al. Among authors: hoffmann gf. Clin Chem. 1999 Dec;45(12):2073-8. Clin Chem. 1999. PMID: 10585338

6

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. Hoffmann GF, et al. Ann Neurol. 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. Ann Neurol. 2003. PMID: 12891655

7

L-dopa and selegiline for tyrosine hydroxylase deficiency.

Häussler M, Hoffmann GF, Wevers RA. Häussler M, et al. Among authors: hoffmann gf. J Pediatr. 2001 Mar;138(3):451-2. doi: 10.1067/mpd.2001.110776. J Pediatr. 2001. PMID: 11241071 No abstract available.

8

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: hoffmann gf. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443

9

Neurotransmitter metabolites in CSF: an external quality control scheme.

Bräutigam C, Weykamp C, Hoffmann GF, Wevers RA. Bräutigam C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2002 Aug;25(4):287-98. doi: 10.1023/a:1016550324235. J Inherit Metab Dis. 2002. PMID: 12227459

10

Biochemical hallmarks of tyrosine hydroxylase deficiency.

Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF. Bräutigam C, et al. Among authors: hoffmann gf. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974

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