Tyrosine hydroxylase deficiency with severe clinical course-Reference-Cited by-同舟云学术

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Tyrosine hydroxylase deficiency with severe clinical course

Published:2009-05 Issue:1 Volume:97 Page:18-20
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Zafeiriou D.I.,Willemsen M.A.,Verbeek M.M.,Vargiami E.,Ververi A.,Wevers R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference9 articles.

1. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC);Wevers;J. Inherit. Metab. Dis.,1999

2. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa–non-responsive dystonia;Hoffmann;Ann. Neurol.,2003

3. Recessively inherited l-dopa–responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene;Lüdecke;Hum. Mol. Genet.,1996

4. Recessive inherited l-dopa–responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene;Knappskog;Hum. Mol. Genet.,1995

5. Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development;Zhou;Nature,1995

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