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Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Mol Genet Metab Rep. 2021 Apr 26;27:100762. doi: 10.1016/j.ymgmr.2021.100762. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33996491
Free PMC article.
Peripheral decarboxylase inhibitors paradoxically induce aromatic L-amino acid decarboxylase.
van Rumund A, Pavelka L, Esselink RAJ, Geurtz BPM, Wevers RA, Mollenhauer B, Krüger R, Bloem BR, Verbeek MM.
van Rumund A, et al. Among authors: geurtz bpm.
NPJ Parkinsons Dis. 2021 Mar 19;7(1):29. doi: 10.1038/s41531-021-00172-z.
NPJ Parkinsons Dis. 2021.
PMID: 33741988
Free PMC article.
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Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
Peters TMA, Lammerts van Bueren I, Geurtz BPBH, Coene KLM, de Leeuw N, Brunner HG, Jónsson JJ, Willemsen MAAP, Wevers RA, Verbeek MM.
Peters TMA, et al. Among authors: geurtz bpbh.
JIMD Rep. 2020 Dec 28;58(1):114-121. doi: 10.1002/jmd2.12194. eCollection 2021 Mar.
JIMD Rep. 2020.
PMID: 33728254
Free PMC article.
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Preliminary effectiveness of a sequential exercise intervention on gait function in ambulant patients with multiple sclerosis - A pilot study.
Heine M, Richards R, Geurtz B, Los F, Rietberg M, Harlaar J, Gerrits K, Beckerman H, de Groot V.
Heine M, et al. Among authors: geurtz b.
Clin Biomech (Bristol, Avon). 2019 Feb;62:1-6. doi: 10.1016/j.clinbiomech.2018.12.012. Epub 2018 Dec 29.
Clin Biomech (Bristol, Avon). 2019.
PMID: 30614444
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The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.
Wassenberg T, Monnens LA, Geurtz BP, Wevers RA, Verbeek MM, Willemsen MA.
Wassenberg T, et al. Among authors: geurtz bp.
JIMD Rep. 2012;4:39-45. doi: 10.1007/8904_2011_84. Epub 2011 Nov 2.
JIMD Rep. 2012.
PMID: 23430895
Free PMC article.
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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: geurtz b.
Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29.
Brain. 2010.
PMID: 20430833
Free article.
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L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA.
de Rijk-Van Andel JF, et al. Among authors: geurtz b.
Neurology. 2000 Dec 26;55(12):1926-8. doi: 10.1212/wnl.55.12.1926.
Neurology. 2000.
PMID: 11134401
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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: geurtz b.
J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576.
J Inherit Metab Dis. 1999.
PMID: 10407773
Review.
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