Results 111 to 120 of about 1,965 (163)

Mucopolysaccharidoses and mucolipidoses [PDF]

Journal of Clinical Pathology, 1974
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Early Diagnosis of Mucopolysaccharidoses in Pediatrics [PDF]

Introduction: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years
Campos, T., Alves, Sandra, Lopes, Altina, Sousa, S., Vilarinho, Laura, Garcia, P., Leão Teles, Elisa, Neiva, Raquel, Ferreira, A., Ribeiro, S., Miranda, A., Nogueira, Célia, Ferreira, S., Sousa e Silva, Lisbeth Elena, Antunes, D., Pereira, Cristina, Rodrigues, E., Diogo, Luisa, da Silva Gaspar, Paulo Jorge Miranda, Janeiro, P.   +19 more
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Evaluation with dual X-ray absorptiometry in 3 patients with mucopolysaccharidoses type 3

, 1999
The paper deals with the evaluation through dual X-ray absorptiometry for 3 patients with mucopolysaccharidoses type 3 (or Sanfilippo syndrome)
Rigante, D
core  

[Mucopolysaccharidoses].

Pediatria polska, 1976
Z, Kopyść, C, Gura, J, Ryzko
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Mucopolysaccharidoses

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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Update in the Mucopolysaccharidoses

Seminars in Pediatric Neurology, 2021
The mucopolysaccharidoses (MPS) are a genetically heterogenous group of enzyme deficiencies marked by accumulation of glycosaminoglycans in lysosomes leading to multisystem disease. Although significant therapeutic advances have been made for the MPS disorders, including recombinant enzyme replacement approaches, the neuronopathic features of MPS lack ...
Kim L, McBride, Kevin M, Flanigan
openaire   +2 more sources

Misdiagnosis in mucopolysaccharidoses

Journal of Applied Genetics, 2022
Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date only in mice) in which an enzymatic defect results in the accumulation of glycosaminoglycans (GAG) in the lysosomes of cells.
Karolina Wiśniewska, Wolski, Jakub, Lidia Gaffke, Zuzanna Cyske, Karolina Pierzynowska, Grzegorz Węgrzyn   +5 more
openaire   +2 more sources

The mucopolysaccharidoses

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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Bone Biomarkers in Mucopolysaccharidoses

International Journal of Molecular Sciences, 2021
The accumulation of glycosaminoglycans (GAGs) in bone and cartilage leads to progressive damage in cartilage that, in turn, reduces bone growth by the destruction of the growth plate, incomplete ossification, and growth imbalance.
Akari Utsunomiya
exaly   +2 more sources

Screening for mucopolysaccharidoses

Clinica Chimica Acta, 1970
Abstract 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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