Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
Author:
Affiliation:
1. ; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatric and Adolescent Medicine; University Hospital Heidelberg; Im Neuenheimer Feld 430 Heidelberg 69120 Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0201-4/fulltext.html
Reference82 articles.
1. α4βδ GABA(A) receptors are high-affinity targets for γ-hydroxybutyric acid (GHB);Absalom;Proc Natl Acad Sci U S A,2012
2. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans;Alfadhel;Hum Genet,2016
3. Workshop report. Glycine encephalopathy (nonketotic hyperglycinemia): review and update;Applegarth;J Inherit Metab Dis,2004
4. The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer;Bak;J Neurochem,2006
5. Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX2;Baker;Brain,2014
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