Jansky Bielschowsky Disease
Mostrando 1-2 de 2 artigos, teses e dissertações.
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1. Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and juvenile (JNCL). Several variant subty
Publicado em: 2010
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2. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases.
Saposins (A, B, C, and D) are small glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Concentrations of these saposins in brain, liver, and spleen from normal humans as well as patients with lysosomal storage disease were determined. A quantitative HPLC method was used for saposin A, C, and D and a stimulation assay