نتایج جستجو برای: mucolipidosis
تعداد نتایج: 464 فیلتر نتایج به سال:
BACKGROUND It is our contention that both categorical and dimensional approaches to diagnosis are important for clinical work and research alike, and that each approach has its drawbacks and advantages. As the processes toward developing DSM-V and ICD-11 progress, we suggest that another exclusively categorical revision of psychiatric taxonomies will no longer be sufficient and that adding a di...
Excessive Activity of Cathepsin K is Associated with the Cartilage Defects in a Zebrafish Model for Mucolipidosis II Aaron C. Petrey*, Heather Flanagan-Steet*, Steven Johnson, Xiang Fan, Mitche De la Rosa, Mark E. Haskins, Alison V. Nairn, Kelley W. Moremen, Richard Steet 1 Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA 2 Departments of Pathobiology and Clini...
Correspondence to Takanobu Otomo: [email protected]; or Thomas Braulke: [email protected] T. Otomo’s present address is Department of Genetics, Osaka University Graduate School of Medicine, 5650871 Suita, Osaka, Japan. Abbreviations used in this paper: Fuc, -fucosidase; Man, -mannosidase; Gal, -galactosidase; Hex, -hexosaminidase; CFSE, carboxyfluorescein succinimidyl ester; Cts,...
Conjunctival and skin biopsies from a 25-monih-old patient with mucolipidosis II (I-cell disease) were studied by electron microscopy. In both tissues the subepithelial connective tissue was markedly hypercellular, as histiocytes and fbroblasts showed extensive vacuolation by single membrane-limited inclusions with fbrillogranular and membranous lamellar contents. The Schwann cells and axonal p...
A new sialic acid-containing oligosaccharide has been isolated from urine of a patient with a type of mucolipidosis newly recognized by Orii et al. (1972). This compound was found to be composed of galactose (2 moles), mannose (3 moles), N-acetylglucosamine (3 moles) and sialic acid (2 moles). On the basis of the results of sequential glycosidase digestion, of methylation analysis, and of the S...
Mucolipidosis type IV is a poorly understood lysosomal storage disease caused by alterations in the mucolipin lysosomal Ca(2+) channel. In this study, we generated mucolipin-knockout Dictyostelium cells, and observed that lysosome exocytosis was markedly increased in these cells compared with wild-type cells. In addition, mucolipin-knockout cells were more resistant to Ca(2+) deprivation, and t...
OBJECTIVE To review recent progress in child and adolescent psychiatric epidemiology in the area of prevalence and burden. METHOD The literature published in the past decade was reviewed under two headings: methods and findings. RESULTS Methods for assessing the prevalence and community burden of child and adolescent psychiatric disorders have improved dramatically in the past decade. There...
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