نتایج جستجو برای: urinary glycosaminoglycans
تعداد نتایج: 112702 فیلتر نتایج به سال:
OBJECTIVE The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be ...
Reliable administration of anti-seizure drugs, like phenobarbital, is critical to maintain seizure control in cats. Unfortunately administering oral phenobarbital to cats can be difficult, resulting in inconsistent dosing, stress to the cat and injury to the owner. Furthermore, a missed dose of anti-seizure medications can result in a seizure. The purpose of this study is to compare blood level...
A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this...
Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of N-sulphoglucosamine sulphohydrolase, which one four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS diagnostics usually constitute selective screening, based on the analysis urinary glycosaminoglycans, further enzymatic assays leukocytes, and mutation analysis. N...
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