Mei 2016
32
Scholl-Burgi S, Hóller A, Pichler K, Michel M, Haberlandt E, Karall D.
Ketogenic diets in patients with inherited metabolic disorders. 2015. J. Inherit Metab Dis 38:765-
773
Sedel F, Challe G, Mayer JM, et al. Thiamine responsive pyruvate dehydrogenase deficiency in an
adult with peripheral neuropathy and optic neuropathy. 2008. J Neurol Neurosurg Psychiatry
79:846-847.
Singhi P, De Meirleir L, Lissens W, Singhi S, Saini AG. Pyruvate dehydrogenase-e1a deficiency
presenting as recurrent demyelination: an unusual presentation and a novel mutation. 2013. JIMD
10:107-11
Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain
disorders in children. 2003. Brain 126:1905–1912.
Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. 2014.
GeneReviews® [Internet].
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff
LA. 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a
study of 26 cases. Brain 129: 1685-92.
Vissing J, Gansted U, Quistorff B. Exercise intolerance in mitochondrial myopathy is not related to
lactic acidosis. 2001. Ann Neurol 49:672-6.
Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, Kakuma T, Kojima T, Ito M, Tanaka M, Saiki R,
Koga Y. 2015. Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
Ann Neurol 78:814-23