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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Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Nickerson, Sarah L., Balasubramaniam, Shanti, Dryland, Philippa A., Love, Jennifer M., Kava, Maina P., Love, Donald R., Prosser, Debra O.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2016
Sarrera elektronikoa: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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