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Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsC...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121296/ https://www.ncbi.nlm.nih.gov/pubmed/27896094 http://dx.doi.org/10.1016/j.ymgmr.2014.04.007 |