@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2014, author={Fidziańska-Dolot, Anna (1930–2015)}, editor={Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular}, copyright={Creative Commons Attribution BY 4.0 license}, address={Warsaw}, howpublished={online}, year={2014}, language={pol}, abstract={An 34-year-old patient with suspected Pompe type glycogenosis was examined. A biopsy of bicepssinister was performed.Electronmicroscopy analysis revealed normal structure of muscle fibers separated by connectivetissue and altered structure and shape of mitochondria characterized by light mitochondrial matrixand devoid ofmitochondrial cristae (Fig. 1,2).A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitinepalmitoyltransferase was performed and the result was 1,45 nM/mgB/min. (Norm 6,5-18 08nM/mgB/min.).}, title={Files for neuromuscular diseases (2014) - nr 46/14}, type={Text}, URL={http://www.rcin.org.pl/Content/110825/PDF/46_14_calosc.pdf}, keywords={Glycogenosis type Pompe, Biceps sinistre}, }