Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity

Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH). NKH is a neuro-metabolic disorder lacking quantit...

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Detalles Bibliográficos
Autores principales: Farris, Joseph, Calhoun, Barbara, Alam, Md. Suhail, Lee, Shaun, Haldar, Kasturi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259800/
https://www.ncbi.nlm.nih.gov/pubmed/32421718
http://dx.doi.org/10.1371/journal.pcbi.1007871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259800/
https://www.ncbi.nlm.nih.gov/pubmed/32421718
http://dx.doi.org/10.1371/journal.pcbi.1007871

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