Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings

• Auteurs principaux: Véronique Taché (Auteur), Liga Bivina (Auteur), Sophie White (Auteur), Jeffrey Gregg (Auteur), Joshua Deignan (Auteur), Simeon A. Boyadjievd (Auteur), Francis R. Poulain (Auteur)
• Format: Livre
• Publié: Hindawi Limited, 2016-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...