AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and Equipment
Mucopolysaccharidosis VIIMucopolysaccharidosesGlucuronidaseMucopolysaccharidosis IMucopolysaccharidosis VIMucopolysaccharidosis IIIMucopolysaccharidosis IIMucopolysaccharidosis IVIduronidaseGlycosaminoglycansN-Acetylgalactosamine-4-SulfataseGenetic TherapyLysosomesChondro-4-SulfataseIduronate SulfataseChondroitinsulfatasesEnzyme Replacement TherapyDogsFactor VIISulfatases

Sly Disease: Mucopolysaccharidosis Type VII. (49/91)

A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.  (+info)

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (50/91)

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Mechanism of shortened bones in mucopolysaccharidosis VII. (51/91)

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Genetic engineering of IgG-glucuronidase fusion proteins. (52/91)

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Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. (53/91)

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Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. (54/91)

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Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. (55/91)

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Mesenchymal stem cells for the sustained in vivo delivery of bioactive factors. (56/91)

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