Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child w...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052303/
https://www.ncbi.nlm.nih.gov/pubmed/27481395
http://dx.doi.org/10.1007/s00439-016-1719-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052303/
https://www.ncbi.nlm.nih.gov/pubmed/27481395
http://dx.doi.org/10.1007/s00439-016-1719-x

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