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- W2426488088 abstract "As far as could be elucidated, a sporadic manifestation of a slowly progressing muscular weakness and atrophy had commenced in a female patient symmetrically in the pelvic girdle and thigh region at the age of about 22 years. Only at the age of 55 years a precise neurological examination was done. On the basis of clinical and electromyographic data spinal muscular atrophy of the Kugelberg-Welander type was diagnosed. Muscular biopsy demonstrated severe far-progressed neurogenic muscular atrophy. In addition, increased storage of PAS-positive material was noticed. This was particularly true in the sparsely preserved, non-denervated muscular areas changed in the manner of an accompanying myopathy. Complementing electron microscopy and pathobiochemistry in the muscular biopsy showed an adult form of lack of acid maltase (Pompe's disease) aetiologically. This enzyme defect could also be demonstrated in the white cells of this patient." @default.
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- W2426488088 date "2008-03-26" @default.
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- W2426488088 title "Adulte Form des Mangels an saurer Maltase unter dem Bild einer progressiven spinalen Muskelatrophie*" @default.
- W2426488088 doi "https://doi.org/10.1055/s-2008-1069229" @default.
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