Metadata language
Files for neuromuscular diseases (2014) - nr 46/14
Creator:Fidziańska-Dolot, Anna (1930–2015)
Contributor:Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular
Place of publishing: Date issued/created: Description:Badanie wycinka mięśniowego w mikroskopie świetlnym i elektronowym
Subject and Keywords:Glycogenosis type Pompe ; Biceps sinistre
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.).
Resource type: Detailed Resource Type: Format: Language: Rights:Creative Commons Attribution BY 4.0 license
Terms of use:Copyright-protected material. [CC BY 4.0] May be used within the scope specified in Creative Commons Attribution BY 4.0 license, full text available at: ; -
Digitizing institution:Mossakowski Medical Research Institute PAS
Original in:Library of the Mossakowski Medical Research Institute PAS
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