Review
doi: 10.1016/s0022-3476(00)90027-1.
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy
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- PMID: 10753262
- DOI: 10.1016/s0022-3476(00)90027-1
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Review
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy
J Pediatr.
2000 Apr.
Abstract
Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransmitters and DNA analysis in a child with severe axial hypotonia and hypokinesia associated with dystonic and ballistic movements. L-dopa therapy was unsuccessful, whereas a combination with selegiline, a selective monoamine oxidase-beta inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.
Comment in
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L-dopa and selegiline for tyrosine hydroxylase deficiency.J Pediatr. 2001 Mar;138(3):451-2. doi: 10.1067/mpd.2001.110776. J Pediatr. 2001. PMID: 11241071 No abstract available.
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