A5023473441- Lysosomal Storage Disorders Research
- Infant Development and Preterm Care
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Neurogenetic and Muscular Disorders Research
- Pineapple and bromelain studies
- Hereditary Neurological Disorders
Universidade de São Paulo
2019-2023
Fundação Faculdade de Medicina
2021
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation Glycosaminoglycans (GAGs) in several organs. Over years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding natural progression disease. The authors evaluated 17 patients from same family with mild form MPS II; proband had developed acute...
ABSTRACT Purpose: to describe the audiological characteristics of patients with mucopolysaccharidosis. Methods: after formulating research question, three databases were considered for search (Science Direct, Virtual Health Library and Web Science); following descriptors used: mucopolysaccharidoses, hearing loss, audiology. Articles included that original complete, presenting evaluation data in Each study was classified according degree recommendation level scientific evidence, based on...
Abstract Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2- sulfatase (IDS), leading to progressive accumulation glycosaminoglycans (GAGs) in several organs. Over years, Enzyme Replacement Therapy (ERT) has provided significant benefit for patients, retarding natural progression disease. Results: We evaluated 17 patients from same family with mild form MPS II; proband had...