Lowe (oculocerebrorenal) syndrome (LS) is an X-linked disorder characterized by congenital cataracts, generalized hypotonia, mental retardation, and renal Fanconi syndrome. The basic defect remains unknown, but the possibility that fibroblasts express reduced sulfation of glycosaminoglycans has been studied in several laboratories. A mechanism involving overproduction of an enzyme (nucleotide p...

Non-pregnant and pregnant rats of known gestational age were killed at intervals and their uterine cervices were excised and digested with papain. Glycosaminoglycans thus extracted were separated by cellulose acetate electrophoresis and stained with Alcian Blue. Glycosaminoglycans were identified by comparison with standards and by serial degradation with chondroitin ABC lyase, butyl nitrite an...

the mucopolysaccharidoses are a clinically and genetically heterogenous group of lysosomal storage diseases caused by defects in different enzymes for mucopolysaccharid degradation (glycosaminoglycans). except for mucopolysaccharide storage disease type ii (hunter disease), all are transmitted through an autosomal recessive mode of inheritanceinheritance. clinical feature of these metabolic dis...

RATIONALE Degradation of the endothelial glycocalyx, a glycosaminoglycan (GAG)-rich layer lining the vascular lumen, is associated with the onset of kidney injury in animal models of critical illness. It is unclear if similar pathogenic degradation occurs in critically ill patients. OBJECTIVES To determine if urinary indices of GAG fragmentation are associated with outcomes in patients with c...

INTRODUCTION/AIM Glycosaminoglycans (GAG) are one of the main constituents of the connective tissue and cellular membrane. Their presence has been evidenced in mucosa and muscular tissue of the urinary bladder of both healthy individuals and those affected by carcinoma. This suggest their potential role in the onset of bladder carcinoma and follow-up of those patients. The aim of the study was ...

Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase, that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum of progression from a severe phenotype to an attenuated e...

We have examined by the coulter counter method whether some substances promote or inhibit calcium oxalate monohydrate crystal aggregation. The substances tested were hyaluronic acid, chondroitin sulfate and urinary lyophilized material of less than 10 k dalton fractions having aggregate activity. As a result, hyaluronic acid promoted aggregation at low concentrations but inhibited it at higher ...

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by deficiency of enzymes that degrade glycosaminoglycans (GAGs). Urinary excretion of GAGs is a common feature of MPS, and is considered their major biomarker. We aimed to adapt the GAG electrophoresis method to a commercial agarose gel which would be able to separate urinary GAGs in a simpler way with good sensitiv...

1Department of Surgical and Morphological Sciences, University of Insubria, via J.H. Dunant 5, 21100 Varese, Italy 2Department of Biomaterials, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands 3Polymer Chemistry and Biomaterials (PBM) Group, Department of Organic Chemistry, Ghent University, Krijgslaan 281 S4, 9000 Ghent, Belgium 4Gene Therapy Laboratory, Liver Unit...