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Botulinum toxin versus lidocaine in the treatment of myofacial pain: a double blind randomized study
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Tappe dello sviluppo cerebrale in relazione alla disponibilità di nutrienti a partire dall'australopiteco
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Skin biopsy: a new diagnostic tool for autonomic dysfunctions in Parkinson's disease?
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A unique association of Marfan syndrome with craniofacial hypoplasia, oligophrenia and severe microphthalmia.
No full textElevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts
No full textSpecific activities of beta-D-hexosaminidase, alpha-D-mannosidase, beta-D-galactosidase and beta-D-glucuronidase were determined in fibroblasts of patients with writer's cramp and torticollis. These diseases show degenerative neurological disorders similar to those observed in lysosomal diseases. Hexosaminidase specific activities, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside and 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrates, were significantly higher in the fibroblasts of patients than in controls. No significant differences were observed in the specific activities of the other lysosomal enzymes. The increased hexosaminidase specific activities in torticollis and writer's cramp may be additional markers for these diseases
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