Muscular glycogen storage diseases without increased glycogen content on histopathological examination
Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towa...
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| Veröffentlicht in: | Molecular genetics and metabolism 2007-08, Vol.91 (4), p.370-373 |
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| container_title | Molecular genetics and metabolism |
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| creator | Hoeksma, M. den Dunnen, W.F.A. Niezen-Koning, K.E. van Diggelen, O.P. van Spronsen, F.J. |
| description | Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. It can be concluded that non-specific findings or even normal appearance of a muscle biopsy does not exclude mGSD. |
| doi_str_mv | 10.1016/j.ymgme.2007.04.012 |
| format | Article |
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From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. 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From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five patients histopathological findings gave a clue towards diagnosis. It can be concluded that non-specific findings or even normal appearance of a muscle biopsy does not exclude mGSD.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>17540597</pmid><doi>10.1016/j.ymgme.2007.04.012</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1096-7192 |
| ispartof | Molecular genetics and metabolism, 2007-08, Vol.91 (4), p.370-373 |
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| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Child Child, Preschool Glycogen - metabolism Glycogen Storage Disease - metabolism Glycogen Storage Disease - pathology Histopathology Humans Male McArdle disease Microscopy, Electron Middle Aged Muscle biopsy Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscle, Skeletal - ultrastructure Muscular glycogen storage disease Pompe disease |
| title | Muscular glycogen storage diseases without increased glycogen content on histopathological examination |
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