Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient-Reference-Cited by-同舟云学术

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Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

Published:2020-02-29 Issue:1 Volume:53 Page:12-15
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Bijarnia‐Mahay Sunita¹^ORCID,Jain Vivek²,Thöny Beat³

Affiliation:

1. Institute of Medical Genetics & Genomics Sir Ganga Ram Hospital New Delhi India

2. Department of Pediatrics and Pediatric Neurology Santokba Durlabhji Memorial Hospital Jaipur India

3. Division of Metabolism University Children's Hospital Zurich Zürich Switzerland

Funder

University Childrens' Hospital Zürich

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12111

Reference11 articles.

1. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

2. An Indian family with tyrosine hydroxylase deficiency

3. An unusual presentation of tyrosine hydroxylase deficiency

4. Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B

Cited by 4 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. Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes;International Journal of Developmental Neuroscience;2024-04-02

2. Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report;BMC Medical Genomics;2023-04-11

3. Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency;Journal of Personalized Medicine;2021-11-12

4. Levodopa/carbidopa;Reactions Weekly;2020-06

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