Nalaganje...
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...
Shranjeno v:
| izdano v: | J Pediatr Genet |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2016
|
| Online dostop: | 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 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|