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mucopolysaccharidosis vi/creatinina
L'enllaç es desa al porta-retalls
11 resultats
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
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OBJECTIVE
To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI.
METHODS
This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.
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BACKGROUND
Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is the autosomal recessive lysosomal disorder resulting from deficient N-acetylgalactosamine 4-sulfatase (ARSB) and the consequent accumulation of glycosaminoglycan (GAG). Patients fully engrafted after hematopoietic stem
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
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OBJECTIVE
To evaluate the efficacy and safety of two dose levels of galsulfase (Naglazyme®) in infants with MPS VI.
METHODS
This was a phase 4, multicenter, multinational, open-label, two-dose level study. Subjects were randomized 1:1 to receive weekly infusions of 1.0 or 2.0 mg/kg of galsulfase for
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
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A cross-sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of the disease. The survey evaluated 121 bona fide MPS VI-affected
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
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The impact of galsulfase enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) VI with phenotypes at either end of the disease spectrum was evaluated. The MPS VI Clinical Surveillance Program (CSP) was established to collect long-term observational data from routine clinical and
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
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BACKGROUND
The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.
OBJECTIVE
The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.
METHODS
We pooled cross-sectional
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
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Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate.
Mucopolysaccharidosis VI.
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Inicieu sessió / registreu-vos
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
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OBJECTIVE
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.
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Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of glycosaminoglycans (GAGs) in urine, plasma, as well as in various tissues. We devised and validated a straightforward, but accurate and precise tandem mass
Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis.
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BACKGROUND
The diagnosis of a mucopolysaccharidosis (MPS) can be achieved by non-enzymatic screening methods, including two-dimensional electrophoresis (2-D EP), and the dimethylmethylene blue (DMB) method. However, the confirmation of MPS diagnosis is difficult to achieve in Taiwan due to the
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