Journal
JOURNAL OF PEDIATRICS
Volume 136, Issue 4, Pages 560-562Publisher
MOSBY-ELSEVIER
DOI: 10.1016/S0022-3476(00)90027-1
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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.
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