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

Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two sibl...

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Argitaratua izan da:JIMD Rep
Egile Nagusiak: Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2015
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501236/
https://ncbi.nlm.nih.gov/pubmed/25614306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_378
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