Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy - Concepedia

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Publication | Open Access

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

DOI Full Paper Access

89

Citations

26

References

2017

Year

Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Élise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel,

The American Journal of Human Genetics

Biallelic MutationsMitochondrial FunctionGenetic DisorderGeneticsInherited Metabolic DiseaseMitochondrial MedicineNeurologyMedicineSevere Neonatal EncephalopathyLipt2 Cause

References

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