Mucopolysaccharidosis Type Ii
Mostrando 1-12 de 16 artigos, teses e dissertações.
-
1. Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting
Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders, with significant negative implications for life span and aspects of quality of life. Their rarity means that producing evidence to guide best practice has often entailed assimilating findings from multiple studies. Core outcome sets (COS) are being incr
J. inborn errors metab. screen.. Publicado em: 01/04/2019
-
2. Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II: A Literature Review and Critical Analysis
Abstract Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological forms of the disease. Another treatment option for MPS, hematopoietic stem cell transplantation
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
3. Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
Abstract The mucopolysaccharidosis (MPS) disorders are a group of rare, inherited lysosomal storage disorders. In each of the 11 MPS (sub)types, deficiency in a specific lysosomal enzyme (1 of 11 identified enzymes) leads to accumulation of glycosaminoglycans, resulting in cell, tissue, and multi-organ dysfunction. There is great heterogeneity in the clinica
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
4. Audiometric evaluation in individuals with mucopolysaccharidosis
OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type I
Clinics. Publicado em: 03/12/2018
-
5. Avaliação audiológica em pacientes com mucopolissacaridose: estudo da ocorrência, tipo e grau de perda auditiva / Audiological evaluation in mucopolysaccharidosis: study of the occurrence, type and degree of hearing loss
Purpose: the mucopolysaccharidosis are a group of diseases caused by a deficiency in the lysosomal enzymes involved in the metabolism of mucopolysaccharides. Inherited metabolic diseases are caused by inborn errors of metabolism that lead to lack of proper functioning of certain enzymes. Hearing loss is a frequent manifestation in patients with mucopolysacch
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/01/2011
-
6. História Natural da Deglutição e Linguagem na Mucopolissacaridose II. / Natural History of Language and Swallowing in Mucopolyssacaridoses.
Purpose: To analyze the evolution of language and swallowing alterations of patients diagnosed with mucopolysaccharidosis type II after one year of the first assessment, and to observe the influence of the variables age, severity of the disease and impairment of breathing. Methods: Seven patients with mucopolysaccharidosis II, two with light type and five wi
Publicado em: 2010
-
7. Avaliação de manifestações clínicas e laboratoriais em heterozigotas para mucopolissacridose tipo II
Introdução: A maioria das doenças lisossômicas são herdadas como traços recessivos, mas a mucopolissacaridose tipo II (MPS II) é de herança ligada ao cromossomo X. As doenças ligadas ao cromossomo X possuem um importante impacto para as famílias devido ao risco que as heterozigotas apresentam em ter um filho afetado. A maioria das heterozigotas par
Publicado em: 2010
-
8. Characterization of musculoskeletal system in individuals with mucopolysaccharidosis type II : some kinectics features and functional consequences / Caracterização do sistema musculo-esqueletico em individuos com mucopolissacaridose Tipo II : alguns aspectos cineticos e consequencias funcionais
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate. Lysosomal accumulation of these glycosaminoglycan molecules results in cell, tiss
Publicado em: 2007
-
9. Effect of Leukocyte Transfusion in a Child with Type II Mucopolysaccharidosis
Treatment of a child affected by type II mucopolysaccharidosis (Hunter's syndrome) with leukocyte transfusions produced dramatic biochemical and clinical changes. The biochemical changes, consisting of greatly increased urinary excretion of glycosaminoglycans and their products of degradation, were transient. The clinical changes, on the other hand, were pro
-
10. Pigment epithelial pattern dystrophy: a peripheral type.
A hitherto undescribed form of pattern dystrophy of the retinal pigment epithelium was found in a patient suffering from mucopolysaccharidosis II or Hunter's disease. We propose the name peripheral pattern dystrophy.
-
11. Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice
Enzyme-replacement therapy is an established means of treating lysosomal storage diseases. Infused therapeutic enzymes are targeted to lysosomes of affected cells by interactions with cell-surface receptors that recognize carbohydrate moieties, such as mannose and mannose 6-phosphate, on the enzymes. We have tested an alternative, peptide-based targeting sys
National Academy of Sciences.
-
12. Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by the deficient activity of iduronidase and by the presence of MPS vacuoles in many tissues of affected patients. We studied whether these characteristics could be used for the antenatal diagnosis of the disease. We obtained amniotic fluid cells from two pregnancies at risk f