Mucopolysaccharidosis Type I
Mostrando 1-12 de 25 artigos, teses e dissertações.
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1. Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediar
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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2. Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detectio
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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3. CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE
RESUMO Objetivo: Descrever a manutenção dos níveis de glicosaminoglicano (GAG) excretados na urina e da estabilização clínica em pacientes com mucopolissacaridose do tipo I (MPS I) com o uso da laronidase num regime de dose alternativo de 1,2 mg/kg a cada duas semanas. Método: Alguns pacientes do nosso serviço participaram de um estudo de otimiza
Rev. paul. pediatr.. Publicado em: 09/05/2019
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4. 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
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5. 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
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6. 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
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7. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires com
Genet. Mol. Biol.. Publicado em: 2014
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8. 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
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9. Mucopolissacaridose tipo I: avaliação de um novo instrumento para classificação fenotípica
Introdução: A mucopolissacaridose tipo I é comumente classificada em três síndromes clínicas (Hurler, Hurler-Scheie e Scheie), de acordo com a gravidade do fenótipo. Devido à alta heterogeneidade da doença e à sobreposição de sintomas em pacientes, alguns autores consideram esta forma de classificação ultrapassada e defendem que a doença apres
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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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
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11. Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurle
Genetics and Molecular Biology. Publicado em: 01/04/2011
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12. PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease