Mucopolysaccharidosis Vi
Mostrando 1-12 de 24 artigos, teses e dissertações.
-
1. Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method,
Resumo Objetivo: A mucopolissacaridose é uma doença genética rara, caracterizada por depósito intralisossômico de glicosaminoglicanos. O comprometimento cardiovascular é frequente. Sinais e sintomas cardíacos são subestimados pelo envolvimento da doença em outros órgãos. A terapia de reposição enzimática pode ser usada em mucopolissacaridose I
J. Pediatr. (Rio J.). Publicado em: 12/09/2019
-
2. Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment
Abstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in
J. inborn errors metab. screen.. Publicado em: 19/06/2019
-
3. Mucopolysaccharidosis: Caregiver Quality of Life
Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and fri
J. inborn errors metab. screen.. Publicado em: 19/06/2019
-
4. Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)
Abstract Introduction: Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome (#OMIM 253200), is a rare autosomal recessive genetic disorder due to deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase (arylsulfatase B) required for the breakdown of dermatan sulfate and chondroitin sulfate. Patient: Report of a female patient sta
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
5. Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study
Abstract Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. A crosssectional survey study of 121 patients with MPS VI conducted in 2001 to 2002 and a 10-year follow-up study of the same pati
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
6. 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
-
7. Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI
Abstract We assessed levels of plasma selenium (Se), selenoproteins and their change after Se supplementation in patients with mucopolysaccharidosis (MPS) types I, II and VI. This was done in a retrospective study of the medical records of 30 patients with MPS I (n=13), MPS II (n=9) and MPS VI (n=8) who were being treated with enzyme replacement therapy. As
Genet. Mol. Biol.. Publicado em: 14/02/2019
-
8. 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
-
9. Severity score system for progressive myelopathy: development and validation of a new clinical scale
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopath
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-07
-
10. 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
-
11. Tratamento inovador da compressão medular com reposição enzimática intratecal nas mucopolissacaridoses tipos I e VI : relato de uma série de casos / Innovative treatment of cord compression with trathecal enzyme replacement therapy in mucopolysaccharidoses I and VI: report of a case series
As mucopolissacaridoses apresentam uma história natural progressiva, causada por defeitos no metabolismo dos glicosaminoglicanos. Frequentemente graves, as mucopolissacaridoses encurtam de forma considerável a expectativa de vida do paciente. Apesar de que em muitos casos a função intelectual é normal, morbidade neurológica considerável pode ser causa
Publicado em: 2011
-
12. Avaliação do efeito da terapia de reposição enzimática na capacidade funcional de pacientes com mucopolissacaridose
Introdução: As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela atividade deficiente de enzimas lisossômicas que afetam o catabolismo de glicosaminoglicanos, o que leva ao seu acúmulo no organismo e a um quadro clínico multisistêmico. As manifestações clínicas geram limitações nas tarefas cotidianas. Objetivos: Avaliar a cap
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2011