Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy-Reference-Cited by-同舟云学术

Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy

Published:2000-04 Issue:4 Volume:136 Page:560-562
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Dionisi-Vici Carlo,Hoffmann Georg F.,Leuzzi Vincenzo,Hoffken Helmut,Bräutigam Christa,Rizzo Cristiano,Steebergen-Spanjers Gerry C.H.,Smeitink Jan A.M.,Wevers Ron A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome;Ludecke;Hum Genet,1995

2. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene;Ludecke;Hum Mol Genet,1996

3. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population;van den Heuvel;Hum Genet,1998

4. Biochemical hallmarks of tyrosine hydroxylase deficiency;Bräutigam;Clin Chem,1998

5. Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl;Birnibacher;Pediatr Res,1998

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