Search Results - Nina V. Fedorova
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Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Published 2021-03-01Get full textBackground. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation. The GAG accumulation in lysosomes leads to dysfu...
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Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case
Published 2020-11-01Get full textBackground. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such pathology are even less often. Clinical case desc...
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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case
Published 2023-01-01Get full textBackground. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ qual...
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