Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Open source

DOI: 10.1186/1750-1172-8-192
Published: 2013-12
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/1750-1172-8-192,
  title = {Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase},
  author = {Yohan Soreze and Audrey Boutron and Florence Habarou and Christine Barnerias and Luc Nonnenmacher and Hélène Delpech and Asmaa Mamoune and Dominique Chrétien and Laurence Hubert and Christine Bole-Feysot and Patrick Nitschke and Isabelle Correia and Claude Sardet and Nathalie Boddaert and Yamina Hamel and Agnès Delahodde and Chris Ottolenghi and Pascale de Lonlay},
  year = {2013},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/1750-1172-8-192},
  url = {https://doi.org/10.1186/1750-1172-8-192}
}

RIS

TY  - JOUR
TI  - Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
AU  - Yohan Soreze
AU  - Audrey Boutron
AU  - Florence Habarou
AU  - Christine Barnerias
AU  - Luc Nonnenmacher
AU  - Hélène Delpech
AU  - Asmaa Mamoune
AU  - Dominique Chrétien
AU  - Laurence Hubert
AU  - Christine Bole-Feysot
AU  - Patrick Nitschke
AU  - Isabelle Correia
AU  - Claude Sardet
AU  - Nathalie Boddaert
AU  - Yamina Hamel
AU  - Agnès Delahodde
AU  - Chris Ottolenghi
AU  - Pascale de Lonlay
PY  - 2013
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/1750-1172-8-192
UR  - https://doi.org/10.1186/1750-1172-8-192
ER  -

APA

Soreze, Y., Boutron, A., Habarou, F., Barnerias, C., Nonnenmacher, L., Delpech, H., Mamoune, A., Chrétien, D., Hubert, L., Bole-Feysot, C., Nitschke, P., Correia, I., Sardet, C., Boddaert, N., Hamel, Y., Delahodde, A., Ottolenghi, C., & Lonlay, P. D. (2013). Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-8-192

Source records

crossref · retrieved 2026-11-10T12:42:13.351Z