@article{c7312bf7a0d047e9b6b03f1970f0b926,
title = "Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.",
keywords = "HUMAN LIPOYLTRANSFERASE GENE, MULTIPLE RESPIRATORY-CHAIN, LIPOIC ACID BIOSYNTHESIS, SACCHAROMYCES-CEREVISIAE, CLUSTER BIOGENESIS, HUMAN-DISEASE, DEFICIENCY, DEHYDROGENASE, NFU1, METABOLISM",
author = "Florence Habarou and Yamina Hamel and Haack, {Tobias B} and Ren{\'e} Feichtinger and Elise Lebigot and Iris Marquardt and Kanetee Busiah and C{\'e}cile Laroche and Marine Madrange and Coraline Grisel and Cl{\'e}ment Pontoizeau and Monika Eisermann and Audrey Boutron and Dominique Chr{\'e}tien and Bernadette Chadefaux-Vekemans and Robert Barouki and Christine Bole-Feysot and Patrick Nitschke and Nicolas Goudin and Nathalie Boddaert and Ivan Nemazanyy and Agn{\`e}s Delahodde and Stefan K{\"o}lker and Rodenburg, {Richard J} and Korenke, {G Christoph} and Thomas Meitinger and Strom, {Tim M} and Holger Prokisch and Agnes Rotig and Chris Ottolenghi and Mayr, {Johannes A.} and {de Lonlay}, Pascale",
note = "Feichtinger, Mayr: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria; Mayr & de Lonlay: These authors contributed equally to this work.",
year = "2017",
doi = "10.1016/j.ajhg.2017.07.001",
language = "English",
volume = "101",
pages = "283--290",
journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",
issn = "0002-9297",
number = "2",
}