نتایج جستجو برای: arylsulfatase b

تعداد نتایج: 899802  

2011
V Opoka – Winiarska A Jurecka A Tylki – Szymańska A Emeryk

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...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1980
P L Chang R G Davidson

Metachromatic leukodystrophy and multiple sulfatase deficiency disorder are severe neurodegenerative diseases inherited as separate autosomal recessive traits. Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. So...

Journal: :iranian journal of child neurology 0
sayena jabbedari 1.students’ research committee, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran. elham rahimian 2. neuroradiologist, haghighat radiology center, tehran, iran narjes jafari 3. pediatric neurologist, shahid beheshti university of medical sciences, tehran, iran sara sanii 4. department of neonatology, shahid beheshti university of medical sciences, tehran, iran habibe nejad biglari 5. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran simin khayatzadeh kakhki 5. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: jabbehdari s, rahimian e, jafari n, sanii s, khayatzadeh kakhki s, nejad biglari h. the clinical features and diagnosis of metachromatic leukodystrophy: a case series of iranian pediatric patients. iran j child neurol. summer 2015;9(3):57-61. abstract objective metachromatic leukodystrophy disorder (mld) is one of the rare neurometabolic diseases caused due to lack of ...

Journal: :Chemosphere 2015
Yu Xian Meie Wang Weiping Chen

Soil enzyme activities are greatly influenced by soil properties and could be significant indicators of heavy metal toxicity in soil for bioavailability assessment. Two groups of experiments were conducted to determine the joint effects of heavy metals and soil properties on soil enzyme activities. Results showed that arylsulfatase was the most sensitive soil enzyme and could be used as an indi...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2011
W M But M Y Wong J C K Chow W K Y Chan W T Ko S P Wu M L Wong T Y Miu W Y Tse W W Y Hung T W Fan C C Shek

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a very rare inherited lysosomal storage disease. We evaluated the efficacy and safety of weekly infusions of recombinant human arylsulfatase B as enzyme replacement therapy for two patients in whom this condition was advanced. The primary outcome variables were the distance walked in a 6-minute walk test, forced vital capacity, and ejection ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1969
M T Porter A L Fluharty H Kihara

Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and b...

رشیدی قادر , فریبا, طالع , علی, علایی , عبدالرسول, مجتهدزاده , فریدون,

Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...

Journal: :The Journal of biological chemistry 1986
P F Weller E J Corey K F Austen R A Lewis

Arylsulfatase B, purified to homogeneity from human eosinophils, is a tetrameric enzyme whose activity varied in accordance with the state of association of its monomeric subunits. The rate of dissociation of oligomeric forms was slow relative to the rate of the enzymatic reaction so that the kinetic properties of the enzyme depended on the concentration of the enzyme before assay. For concentr...

Journal: :The Journal of clinical investigation 1993
M Yoshida J Noguchi H Ikadai M Takahashi S Nagase

A rat colony with mucopolysaccharidosis VI was established and the clinical, pathological, and biochemical features were characterized. Affected rats had facial dysmorphia, dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but no d...

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