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Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings
A term male neonate developed severe intractable lactic acidosis on day of life 1 and died the same day at our institution. The family previously lost another term, female newborn on day of life 1 from suspected sepsis at an outside hospital. After performing an autopsy on the neonate who died at ou...
Autores principales: | Taché, Véronique, Bivina, Liga, White, Sophie, Gregg, Jeffrey, Deignan, Joshua, Boyadjievd, Simeon A., Poulain, Francis R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877452/ https://www.ncbi.nlm.nih.gov/pubmed/27247813 http://dx.doi.org/10.1155/2016/6520148 |
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