mucopolysaccharidosis

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Noun1.mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
References in periodicals archive ?
On Monday, in a medical first, Brian Madeux received an experimental in-body gene-editing treatment intended to cure him of Mucopolysaccharidoses II, known as MPS II or Hunter syndrome, a rare disorder that causes progressive damage to the body's cells.
Mucopolysaccharidoses (MPS) are a heterogeneous group of rare inheritable lysosomal storage disorders, characterised by intracellular accumulation of glycosaminoglycans (GAGs) in the lysosomes, because of deficiency of various lysosomal enzymes required for the breaking down of these glycosaminoglycans molecules.
There have been relatively large numbers of recent studies on the analysis of glycosaminoglycan fragments by MS/MS as potential biomarkers for mucopolysaccharidoses.
Mucopolysaccharidoses (MPS) represent a rare lysosomal storage disorder that can be detected early in the paediatric age group by MRI of the brain.
The neuroradiologic findings are not specific, and they are commonly quite similar among the mucopolysaccharidoses.
On May 15 every year, those with arare disease called mucopolysaccharidoses (MPS) gather to create awareness about their condition.
Zacharon Pharmaceuticals and University of California, San Diego School of Medicine researchers have developed a test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that until now generally have not been discovered until they present clinically.
The mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases that result in abnormal accumulation of glycosaminoglycans throughout the body.
Washington, Jan 9 (ANI): Scientists have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious and the damage possibly irreversible.
This text identifies the pathophysiology of various orthopedic diseases, including unusual malignant and benign tumors, mucopolysaccharidoses, and unusual genetic disorders (in comparison to the first volume, which concentrated on common diseases).