نتایج جستجو برای: maroteaux lamy syndrome
تعداد نتایج: 622119 فیلتر نتایج به سال:
A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.
UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in ...
The lysosomal storage disorders are a group of diseases that typified by an accumulation waste products in the lysosomes. Mucopolysaccharidoses due to diverse enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented our metabolic bone clinic with clinical features were suggestive genetic syndrome associated disease. urine GAG spot test positive. MPS screen identified reduction...
Background Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene located in chromosome 5. Pathogenic mutations of this gene result in reduced or absent activity of enzyme arylsulfatase B (N-acetylgalactosamine 4-sulfatase, ARSB). Incomplete degradation and cellular accumulation of glyco...
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controll...
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