Results 131 to 140 of about 3,483 (174)
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Journal of Paediatrics and Child Health, 1987
AbstractThe experience of the Royal Children's Hospital in managing patients with mucopolysaccharidosis is discussed. All share the common feature of abnormal storage, within lysosomes, of partially degraded glycosaminoglycans, but different diseases within the group as a whole present different problems.
J E, Wraith, J G, Rogers, D M, Danks
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AbstractThe experience of the Royal Children's Hospital in managing patients with mucopolysaccharidosis is discussed. All share the common feature of abnormal storage, within lysosomes, of partially degraded glycosaminoglycans, but different diseases within the group as a whole present different problems.
J E, Wraith, J G, Rogers, D M, Danks
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Current Rheumatology Reports, 2013
The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for GAG degradation. Incomplete breakdown of glycosaminoglycans leads to progressive accumulation of these substances in many tissues throughout the body.
CIMAZ, ROLANDO, F. L. Torre
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The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for GAG degradation. Incomplete breakdown of glycosaminoglycans leads to progressive accumulation of these substances in many tissues throughout the body.
CIMAZ, ROLANDO, F. L. Torre
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Screening for mucopolysaccharidoses
Clinica Chimica Acta, 1970Abstract Several simple screening methods for excess mucopolusaccharide excretion in urine have been used and their relative merits are discussed. A simple turbidity test using cetylpyridinium chloride in a citrate buffer has been selected as the method of choice and results of its use in screening a thousand children with mental or physical ...
C A, Pennock, M G, Mott, G F, Batstone
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Mucopolysaccharidoses in Calcutta
The Indian Journal of Pediatrics, 1986Seven hundred children referred to the clinic for mental retardation were screened for various inborn errors of metabolism. Eighteen were found to have mucopolysaccharidoses (MPS). Ten of these children were followed for a period of five years. Three of them died.
C, Ganguly +3 more
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Mucopolysaccharidoses and the Eye
Survey of Ophthalmology, 2006The mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycans. They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II ...
Jane L, Ashworth +3 more
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Advances in Pediatrics, 1986
The MPSs are a heterogeneous group of disorders caused by the deficiency of one of ten lysosomal enzymes and the resultant accumulation of glycosaminoglycans in tissues and organs. The phenotypic variations of each disorder are continuing to be expanded, while the biochemical explanation of these variations needs to be defined.
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The MPSs are a heterogeneous group of disorders caused by the deficiency of one of ten lysosomal enzymes and the resultant accumulation of glycosaminoglycans in tissues and organs. The phenotypic variations of each disorder are continuing to be expanded, while the biochemical explanation of these variations needs to be defined.
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Triggering in the Mucopolysaccharidoses
Journal of Pediatric Orthopaedics B, 1998Upper limb dysfunction, particularly in relation to skeletal dysplasia and median nerve dysfunction, is well recognized in the mucopolysaccharidoses and mucolipidoses. This is of increasing importance because bone marrow transplantation has dramatically improved survival without changing the musculoskeletal manifestations.
F S, Haddad, R A, Hill, D H, Jones
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The Mucopolysaccharidoses and Mucolipidoses
Clinical Orthopaedics and Related Research, 1976The mucopolysaccharidoses and mucolipidoses are recessively inherited lysosomal storage diseases. Each of the disorders can now be specifically identified in cultured fibroblasts. As a group these disorders clinically present with a Hurler-like phenotype.
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The nosology of the mucopolysaccharidoses
The American Journal of Medicine, 1969Abstract A combination of clinical, genetic, morphologic and biochemical approaches has permitted firm delineation of several distinct mucopolysaccharidoses. Recent additions to the morphologic methods for studying these conditions include demonstration of metachromasia in fibroblasts and monocytes and electronmicro-scopic identification of swollen ...
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Mucopolysaccharidoses and mucolipidoses
2013The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, developmental regression, and a reduced life expectancy at the severe end of the clinical spectrum to an almost normal clinical ...
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