نتایج جستجو برای: mucopolysaccharidosis type i
تعداد نتایج: 2218703 فیلتر نتایج به سال:
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive disorder characterized by a deficiency of the enzyme iduronate-2-sulfatase leading to a multisystem involvement by tissue accumulation of glycosaminoglycans heparan and dermatan sulfate. We report a case of a 9-year-old boy diagnosed with mucopolysaccharidosis type II at 4 years of age, classified as severe variant. He presented ne...
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.
Fig. 4 : Photomicrograph of general blood picture showing inclusion bodies in lymphocyte (Gasser cell). A 5-year-old boy was brought to our medical OPD with severe chest deformity and growth retardation. He had six siblings of which two more had similar illness in a 21-year-old sister and 1-year-old brother (Fig. 1). His parents and grand parents had no such illnesses. Clinical examination reve...
INTRODUCTION Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability. In our country, the specific diagnosis and enzyme replacement therapy (ERT)...
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