@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 13-year-old patient with suspected Pompe type glycogenosis was examined. A biopsy ofquadriceps dexter was performed.Electronmicroscopy analysis revealed normal structure and size of some muscle fibers formingcompact bunches separated by connective tissue (Fig. 1). We observed altered structure and shapeof mitochondria (Fig. 2), they were often characterized by light mitochondrial matrix and weredevoid ofmitochondrial cristae (Fig 3,4).A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitinepalmitoyltransferase was performed and the result was 2,08 nM/mgB/min. (Norm 6,5-18 08nM/mgB/min.).}, title={Files for neuromuscular diseases (2014) - nr 45/14}, type={Text}, URL={http://www.rcin.org.pl/Content/110820/PDF/45_14_calosc.pdf}, keywords={Glycogenosis type Pompe}, }