A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
Author:
Funder
Hacettepe Üniversitesi
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference9 articles.
1. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans;Alfadhel;Hum. Genet.,2016
2. Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition;Gomeza;Neuron,2003
3. GlyT1 encephalopathy: characterization of presumably disease causing GlyT1 mutations;Hauf;Neurochem. Int.,2020
4. Loss of Glycine transporter 1 causes a subtype of Glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid Glycine;Kurolap;Am. J. Hum. Genet.,2016
5. GLYT1 encephalopathy: further delineation of disease phenotype and discussion of pathophysiological mechanisms;Mademont-Soler;Am. J. Med. Genet.,2021
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