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Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia, also known as glycine encephalopathy (OMIM #605899), is an autosomal recessive disorder of glycine metabolism resulting from a defect in the glycine cleavage system. We report two novel mutations of the glycine decarboxylase (GLDC) gene observed in a compound heterozygous...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2016
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4999328/ https://ncbi.nlm.nih.gov/pubmed/27617160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1584358 |
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