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Wortmann, Saskia; Mayr, Johannes; Nuoffer, Jean-Marc; Prokisch, Holger; Sperl, Wolfgang (2017). A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics, 48(04), pp. 309-314. Thieme 10.1055/s-0037-1603776
Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189
