Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

P. Prasun; S. Young; G. Salomons; A. Werneke; Y.H. Jiang; E.A. Struijs; M. Paige; M.L. Avantaggiati; M. McDonald

doi:https://doi.org/10.1007/8904_2014_378

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

P. Prasun, S. Young, G. Salomons, A. Werneke, Y.H. Jiang, E.A. Struijs, M. Paige, M.L. Avantaggiati, M. McDonald

Laboratory Medicine (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Original language	English
Pages (from-to)	111-115
Journal	JIMD reports
Volume	19
DOIs	https://doi.org/10.1007/8904_2014_378
Publication status	Published - 2015

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https://doi.org/10.1007/8904_2014_378

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Prasun, P., Young, S., Salomons, G., Werneke, A., Jiang, Y. H., Struijs, E. A., Paige, M., Avantaggiati, M. L., & McDonald, M. (2015). Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. JIMD reports, 19, 111-115. https://doi.org/10.1007/8904_2014_378

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author = "P. Prasun and S. Young and G. Salomons and A. Werneke and Y.H. Jiang and E.A. Struijs and M. Paige and M.L. Avantaggiati and M. McDonald",

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Prasun, P, Young, S, Salomons, G, Werneke, A, Jiang, YH, Struijs, EA, Paige, M, Avantaggiati, ML & McDonald, M 2015, 'Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria', JIMD reports, vol. 19, pp. 111-115. https://doi.org/10.1007/8904_2014_378

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AU - Prasun, P.

AU - Young, S.

AU - Salomons, G.

AU - Werneke, A.

AU - Jiang, Y.H.

AU - Struijs, E.A.

AU - Paige, M.

AU - Avantaggiati, M.L.

AU - McDonald, M.

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