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Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyop...
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Publicado no: | JIMD Rep |
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Main Authors: | , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer Berlin Heidelberg
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5585110/ https://ncbi.nlm.nih.gov/pubmed/27858371 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_17 |
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