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Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review
Glycine transporter 1 encephalopathy (OMIM# 617301; glycine encephalopathy with normal serum glycine, GLYT1 transporter dysfunction, and nonketotic hyperglycinemia) is caused by mutations in the SLC6A9 gene. To date, 6 cases have been reported in the literature, characterized as having neonatal onse...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383083/ https://www.ncbi.nlm.nih.gov/pubmed/30815509 http://dx.doi.org/10.1177/2329048X19831486 |