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Mucopolissacaridoses: aspectos bioquímicos, tentativas terapêuticas e caracterização de uma nova síndrome
(Universidade Federal de São Paulo (UNIFESP), 1985)
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
(WILEY-LISS, 2008)
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth ...
Análise estrutural de heparam sulfato urinário no diagnóstico diferencial das mucopolissacaridoses
(Universidade Federal de São Paulo (UNIFESP), 1992)
Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome
(Lippincott Williams & Wilkins, 2001-04-01)
Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradation and storage of dermatan sulfate. We report a case of mucopolysaccharidosis ...
Differentiation of mucopolysaccharidoses by analyses of the excreted sulfated mucopolysaccharides
(Elsevier B.V., 1977-01-01)
Analyses of sulfated mucopolysaccharides excreted by patients with Hunter, Hurler, Scheie, Sanfilippo A and Sanfilippo B syndromes are reported. Three distinct methods, namely agarose gel electrophoresis, enzymatic degradation ...
Spinal cord issues in adult patients with MPS: transition of care survey
(Child's Nervous System, 2018-05-27)
Purpose
This study aims to raise awareness of the need for research and appropriate guidelines for managing spinal cord issues in adult patients with mucopolysaccharidosis (MPS) and transition of these patients from pediatric ...
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
(2015-02-10)
Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, ...
alpha-L-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice
(Wiley-Blackwell, 2015-01-01)
BackgroundMucopolysaccharidose type I (MPSI) is a lysosomal monogenic disease caused by mutations in the gene for - l-iduronidase (IDUA). MPSI patients need a constant supply of IDUA to alleviate progression of the disease. ...