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...

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Detalles Bibliográficos
Autores principales: Taché, Véronique, Bivina, Liga, White, Sophie, Gregg, Jeffrey, Deignan, Joshua, Boyadjievd, Simeon A., Poulain, Francis R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
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

Internet

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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