Search Results - Marina A. Babaykina
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Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II
Published 2023-08-01Get full textBackground. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate and heparan sulfate). GAG accumulation in cells...
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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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Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report
Published 2023-12-01Get full textBackground. Hurler syndrome (mucopolysaccharidosis, type I) is a rare hereditary disease with chronic course. The main methods for Hurler syndrome management are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, combination treatment (ERT administr...
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Modern Aspects of Anticoagulation System Disorders Diagnosis in Children with Different Polymorphisms in Coagulation Genes. Initial Results
Published 2022-10-01Get full textBackground. Hemostatic system pathology is topical and poorly studied issue in pediatrics. One of the main causes of coagulation pathway disorders associated with thrombotic events is abnormality in various parts of the hemostatic system. Vascular accidents are commonly caused by anticoagulation sys...
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Alfa-mannosidosis: Frequent Symptoms in Rare Patient
Published 2023-01-01Get full textBackground. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation....
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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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Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
Published 2016-12-01Get full textMucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. T...
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