Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximalGCH1promoter-Reference-Cited by-同舟云学术

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Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximalGCH1promoter

Published:2010-09-14 Issue:2 Volume:26 Page:337-340
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Bodzioch Marek,Lapicka-Bodzioch Katarzyna,Rudzinska Monika,Pietrzyk Jacek J.,Bik-Multanowski Miroslaw,Szczudlik Andrzej

Funder

Polish Ministry of Science and Higher Education

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23364/fullpdf

Reference17 articles.

1. Tetrahydrobiopterin biosynthesis, regeneration and functions;Thöny;Biochem J,2000

2. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase;Thöny;Hum Mutat,2006

3. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities;Sumi-Ichinose;J Neurochem,2005

4. Estradiol increases guanosine 5′-triphosphate cyclohydrolase expression via the nitric oxide-mediated activation of cyclic adenosine 5′-monophosphate response element binding protein;Sun;Endocrinology,2009

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2. Tremor in Childhood;Contemporary Clinical Neuroscience;2023

3. Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review;Frontiers in Genetics;2022-07-13

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

5. Movement Disorders and Inherited Metabolic Disorders;2020-09-24

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