TY - JOUR
T1 - Tyrosine hydroxylase deficiency with severe clinical course
T2 - Clinical and biochemical investigations and optimization of therapy
AU - Dionisi-Vici, Carlo
AU - Hoffmann, Georg F.
AU - Leuzzi, Vincenzo
AU - Hoffken, Helmut
AU - Bräutigam, Christa
AU - Rizzo, Cristiano
AU - Steebergen-Spanjers, Gerry C H
AU - Smeitink, Jan A M
AU - Wevers, Ron A.
PY - 2000
Y1 - 2000
N2 - 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-β inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.
AB - 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-β inhibitor, with low-dose L-dopa markedly improved the severe clinical picture.
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M3 - Article
C2 - 10753262
AN - SCOPUS:0033914517
VL - 136
SP - 560
EP - 562
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 4
ER -