Kistler, kaynak aldıkları epitel dokusuna göre farklı özellik gösterebilen merkezî konumlu bir lümene ve bağ doku duvarına sahip patolojik boşluklardır. Çocuklarda nadir görülmekle birlikte, erişkinlere daha hızlı büyüme ilerleme özelliği gösterebilmektedirler. Dişlerin gömülü kalmasına sürememesine, mine malformasyonlarına, çene fraktürlerine, dokusunun metaplazi göstermesiyle kanser gelişimin...

We report a new assay of N-acetylgalactosamine-4-sulfatase (aryl sulfatase B) activity in dried blood spots (DBS) for the early detection of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in newborn screening. The assay uses a synthetic substrate consisting of N-acetylgalactosamine-4-sulfate moiety glycosidically linked to a hydrophobic residue and furnished with a tert-butyloxycarbamido gr...

AIM To carry out a detailed morphological study of the cornea of a 16 year old female with a Maroteaux-Lamy syndrome (MLS). METHODS Following a penetrating keratoplasty in July 1999, ultrastructural changes in the cornea were examined using electron microscopy. Proteoglycans were visualised using cuprolinic blue dye; and betaig-h3 and keratan sulphate were detected by immunoelectron microscop...

involves the fibroblast growth-factor receptor 3 gene. Blood 10:4062, 1997 9. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321, 1995 10. Caligaris-Cappio F, Bergui L, Gregoretti MG, Gaidano G, Gaboli M, Schena...

INTRODUCTION Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously...

Natriuretic peptides (NPs) comprise a family of structurally related but genetically distinct hormones that regulate a variety of physiological processes such as cardiac growth, blood pressure, axonal pathfinding and endochondral ossification leading to the formation of vertebrae and long bones. The biological actions of NPs are mediated by natriuretic peptide receptors (NPRs) A, B and C that a...

conference held during October 1979 in Toronto, brings together a wealth of information added to our understanding of the molecular biology of the lysosome. The first two chapters concisely review aspects of the genetics and metabolic regulation of lysosomal enzyme activity. The following group of papers, in logical sequence, trace newer developments in the mechanisms of membrane glycoprotein s...