Echocardiography in Mucopolysaccharidosis Iva: Evaluation of Enzyme Replacement Therapy
نویسندگان
چکیده
منابع مشابه
DRUG EVALUATION Idursulfase for enzyme-replacement therapy in mucopolysaccharidosis II
10.2217/14750708.4.3.231 © 2 Hunter syndrome (mucopolysaccharidosis II) is a rare, X-linked disorder caused by the missing or deficient lysosomal enzyme, iduronate-2-sulfatase, which leads to tissue and organ accumulation of glycosaminoglycans, resulting in multisystem dysfunction with death occurring most commonly in the first or second decade of life. Enzyme-replacement therapy with idursulfa...
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BACKGROUND. The objective of this study is to evaluate the response of the musculoskeletal system to enzyme replacement therapy in a group of patients with Mucopolysaccharidosis (MPS). MATERIAL AND METHODS. A retrospective study was done based on records from 22 patients with different types of MPS (I, II and VI) who were treated with enzyme replacement therapy (ERT). Patient data were evaluate...
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Recombinant mouse beta-glucuronidase administered intravenously to newborn mice with mucopolysaccharidosis type VII (MPS VII) is rapidly cleared from the circulation and localized in many tissues. Here we determine the tissue distribution of injected enzyme and describe its effects on the histopathology in 6-wk-old MPS VII mice that received either one injection of 28,000 U recombinant beta-glu...
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Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease which results in a striking skeletal phenotype, but does not negatively impact the intellect of the patient. MPS IVA has a phenotypic continuum that ranges from a severe and rapidly progressing form to a slowly progressive form. The clinical diagnosis is often made in the preschool years ba...
متن کاملAtypical presentation of mucopolysaccharidosis type IVA
A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Whole exome sequencing was performed and showed compound heterozygosity for p...
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ژورنال
عنوان ژورنال: ARQUIVOS BRASILEIROS DE CARDIOLOGIA - IMAGEM CARDIOVASCULAR
سال: 2017
ISSN: 2318-8219
DOI: 10.5935/2318-8219.20170006