Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: Facial dysmorphism in siblings with epileptic encephalopathy and combined D,l-2-hydroxyglutaric aciduria

Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke, Yong hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, Marie McDonald

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

20 Scopus citations

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Medicine & Life Sciences

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