Mucopolysaccharidosis I
Mostrando 1-12 de 45 artigos, teses e dissertações.
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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
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2. 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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3. β-Galactosidase Deficiency in Colombia: Report of 20 Patients Detected Using Dried Blood Spot Samples
Abstract β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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4. 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
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5. Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
Abstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatog
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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6. 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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7. 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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8. 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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9. 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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10. 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
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11. 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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12. 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