A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis-Reference-Cited by-同舟云学术

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A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

Published:2007-11 Issue:3 Volume:92 Page:274-277
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ribasés Marta,Serrano Mercedes,Fernández-Álvarez Emilio,Pahisa Sandra,Ormazabal Aida,García-Cazorla Àngels,Pérez-Dueñas Belén,Campistol Jaume,Artuch Rafael,Cormand Bru

Publisher

Elsevier BV

Subject

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

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1;Journal of Inherited Metabolic Disease;2023-12-12

2. Dopa-Responsive Dystonia and Related Disorders;Movement Disorder Emergencies;2021-10-03

3. Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency;Medicine;2020-08-14

4. Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia;Frontiers in Pediatrics;2020-02-28

5. Neurotransmitter disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

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