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Variables Epidemiológicas de la Mucopolisacaridosis en el Cantón Archidona, Hospital José María Velasco Ibarra, Período 2017-2018
(Escuela Superior Politécnica de Chimborazo, 2019-10-10)
This study aimed to characterize the epidemiological variables of mucopolysaccharidosis in Archidona canton, Napo province, in the 2017-2018 period. The type of research applied was descriptive, retrospective, cross-sectional, ...
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment
(Sociedade Brasileira de Genética, 2015)
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(Sociedade Brasileira de Genética, 2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
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 ...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(Sociedade Brasileira de Genética, 2010-01-01)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay
(2022)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation ...