Results 201 to 210 of about 8,642 (245)
Obstructed Umbilical Hernia with Cecal Perforation and Omphalitis: A Unique Case in an Infant.
J Indian Assoc Pediatr SurgShah A, Sharma R, Momin A, Shah A.
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2011
This chapter provides a review of the fascinating genetic disorders known as mucopolysaccharidoses that are caused by the intralysosomal accumulation of glycosaminoglycans in various tissues. Due to absent activity of a variety of lysosomal enzymes, a characteristic clinical phenotype usually develops in early childhood and then evolves with coarse ...
Megan A. Brockel, James J. Fehr
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This chapter provides a review of the fascinating genetic disorders known as mucopolysaccharidoses that are caused by the intralysosomal accumulation of glycosaminoglycans in various tissues. Due to absent activity of a variety of lysosomal enzymes, a characteristic clinical phenotype usually develops in early childhood and then evolves with coarse ...
Megan A. Brockel, James J. Fehr
+6 more sources
Current Paediatrics, 1996
Mucopolysaccharidoses (MPS) are a lysosomal storage disorders caused by deficiency of several enzymes needed for degradation of mucopolysaccharides (glycosaminoglycans). Undegraded glycosaminoglycans accumulate in the cell, part of which are excreted into the urine. There are 10 known enzyme deficiencies that give rise to six distinct MPS.
S, Fukuda +3 more
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Mucopolysaccharidoses (MPS) are a lysosomal storage disorders caused by deficiency of several enzymes needed for degradation of mucopolysaccharides (glycosaminoglycans). Undegraded glycosaminoglycans accumulate in the cell, part of which are excreted into the urine. There are 10 known enzyme deficiencies that give rise to six distinct MPS.
S, Fukuda +3 more
+6 more sources
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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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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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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2018
Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have
Catherine P. Seipel +1 more
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Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have
Catherine P. Seipel +1 more
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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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