A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)-Reference-Cited by-同舟云学术

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

Published:1999-06 Issue:4 Volume:22 Page:364-373
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wevers R. A.¹,de Rijk-van Andel J. F.²,Bräutigam C.³,Geurtz B.¹,van den Heuvel L. P. W. J.¹,Steenbergen-Spanjers G. C. H.¹,Smeitink J. A. M.¹,Hoffmann G. F.³,Gabreëls F. J. M.¹

Affiliation:

1. ; Institutes of Neurology and Paediatrics; University Hospital; Nijmegen The Netherlands

2. ; Department of Neurology; Ignatius Hospital Breda; The Netherlands

3. ; Department of Paediatrics; University Hospital Marburg; Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005539803576/fullpdf

Reference23 articles.

1. Biochemical hallmarks of tyrosine hydroxylase deficiency;Bräiutigam;Clin Chem,1998

2. Localisation of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways;Craig;Cytogenet Cell Genet,1986

3. Effect of eating bananas on plasma free and sulphate-conjugated catecholamines;Davidson;Life Sci,1981

4. New species of human tyrosine hydroxylase mRNA are produced in variable amounts in adrenal medulla and are overexpressed in progressive supranuclear palsy;Dumas;J Neurochem,1996

5. Crystal structure of tyrosine hydroxylase at 2.3 Å and its implications for inherited neurodegenerative diseases;Goodwill;Nature Structural Biology,1997

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