Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency-Reference-Cited by-同舟云学术

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

Published:2022-06-06 Issue:5 Volume:63 Page:400-406
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Champagne Marjolaine¹,Horvath Gabriella A.²,Perreault Sébastien³,Gauthier Julie¹⁴,Hyland Keith⁵,Soucy Jean‐François¹⁴,Mitchell Grant A.¹⁴

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics, Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte‐Justine Université de Montréal Montréal Québec Canada

2. Division of Biochemical Diseases, Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada

3. Division of Child Neurology, Department of Pediatrics Centre Hospitalier Universitaire Sainte‐Justine Montréal Québec Canada

4. Integrated Centre for Pediatric Clinical Genomics, Centre Hospitalier Universitaire Sainte‐Justine Montréal Québec Canada

5. MNG Laboratories (Medical Neurogenetics, LLC.), MNG, a Wholly Owned Subsidiary of Laboratory Corporation of America Holdings San Diego California USA

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12306

Reference17 articles.

1. An unusual presentation of tyrosine hydroxylase deficiency

2. Genes for human catecholamine-synthesizing enzymes

3. Furukawa Y.&Kish S.Tyrosine Hydroxylase Deficiency. inGeneReviews®(eds. Adam M. P. et al.)(University of Washington Seattle 1993).

4. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa‐responsive dystonia. PubMed NCBI.https://www.ncbi.nlm.nih.gov/pubmed/10496263.

5. Targeted Disruption of the Tyrosine Hydroxylase Locus Results in Severe Catecholamine Depletion and Perinatal Lethality in Mice

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