Inherited disorders of amine biosynthesis
Author:
Affiliation:
1. Associate Professor, Neurology, Adjunct Associate Professor, Pediatrics, , 50 North Medical Drive, Room 3R210 University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Abstract
Publisher
Future Medicine Ltd
Subject
Clinical Neurology,Neurology
Link
https://www.futuremedicine.com/doi/pdf/10.2217/14796708.1.5.605
Reference29 articles.
1. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
2. High penetrance and pronounced variation in expressivity ofGCH1mutations in five families with dopa-responsive dystonia
3. A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia
4. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
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1. Dystonia;Movement Disorders;2015
2. Acute Administration of L-Dopa Induces Changes in Methylation Metabolites, Reduced Protein Phosphatase 2A Methylation, and Hyperphosphorylation of Tau Protein in Mouse Brain;Journal of Neuroscience;2012-07-04
3. The Genetics of Dystonias;Advances in Genetics Volume 79;2012
4. Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome);The Journal of ECT;2009-12
5. Monoamine metabolism study in-severe, early-onset epilepsy in childhood;EPILEPTIC DISORD;2008
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