نتایج جستجو برای: mucolipidosis

تعداد نتایج: 464  

Journal: :Biochemistry (Moscow) Supplement Series A: Membrane and Cell Biology 2009

Journal: :Psychological medicine 2006
John E Helzer Helena C Kraemer Robert F Krueger

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...

2011
Heather Flanagan-Steet Steven Johnson Xiang Fan Mitche De la Rosa Mark E. Haskins Alison V. Nairn Kelley W. Moremen Richard Steet

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...

2015
Takanobu Otomo

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,...

Journal: :Investigative ophthalmology 1971
K R Kenyon J A Sensenbrenner

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...

Journal: :The Tohoku journal of experimental medicine 1979
M Koseki K Tsurumi

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...

Journal: :Journal of cell science 2012
Wanessa C Lima Florence Leuba Thierry Soldati Pierre Cosson

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...

Journal: :Journal of the American Academy of Child and Adolescent Psychiatry 2005
E Jane Costello Helen Egger Adrian Angold

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...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید