نتایج جستجو برای: vi mps
تعداد نتایج: 47894 فیلتر نتایج به سال:
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan (GAG) metabolism. These diseases are classified by enzyme deficiency into seven groups: type I, II, III, IV, VI, VII, and IX. GAG accumulation leads to characteristic clinical features. Some ophthalmic findings that are characteristic of MPS diseases include corneal clouding, ...
INTRODUCTION Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that causes the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. OBJECTIVE Describing the audiological finding...
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux-Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgit...
OBJECTIVE To describe the outcome of penetrating keratoplasty (PK) for corneal opacification in the setting of systemic mucopolysaccharidoses (MPS). METHODS A consecutive case series and literature review. RESULTS Eight eyes from 5 patients with MPS (MPS I, MPS IV, and MPS VI) and a history of PK met inclusion criteria for our case series at the University of Minnesota Medical Center. The m...
Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB (galsulfase, Naglazyme®), and preclinical and clinical studies have shown clinical benefits of early initiation. We report four unrelated MPS VI children who began ERT as infants (ages 5 days–10 months). The three older patients showed the first cl...
The early and accurate diagnosis of the mucopolysaccharidoses remains a problem for the clinical laboratory. Reported here is the systematic compari son of the ability of three common glycosaminoglycanuria screening proce dure (the Berry spot test, the AMES MPS® spot test, and the gross acid albumin turbidity test) to detect the mucopolysaccharidoses. These tests were run on random urine samp...
BACKGROUND AND METHODS: Growth failure is characteristic of untreated mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome). Growth was studied in fifty-six MPS VI patients (5 to 29 years old) prior to and for up to 240 weeks of weekly infusions of recombinant human arylsulfatase B (rhASB) at 1 mg/kg during Phase 1/2, Phase 2, Phase 3 or Phase 3 Extension clinical trials. Height, weig...
INTRODUCTION Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration background. MPS VI is treated by enzyme replacement therapy (ERT), which is time-consuming and expensive. METHODS This interdisciplinary study explore...
BACKGROUND Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans (GAGs) in connective tissue. The genotype-phenotype correlation has been addressed in several publications but the picture is not complete. Since...
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