Enzyme Replacement Therapy
Mostrando 1-12 de 112 artigos, teses e dissertações.
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1. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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2. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
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3. Adesão de adolescentes com fibrose cística a terapia de reposição enzimática: fatores associados
Resumo O objetivo deste artigo é avaliar a prevalência e os fatores associados à adesão a terapia de reposição enzimática em adolescentes com Fibrose cística. Estudo transversal, descritivo e observacional. Foram coletados dados sociodemográficos e clínicos. Os instrumentos utilizados para avaliar adesão foram: questionário de Morisky-Green e a d
Ciênc. saúde coletiva. Publicado em: 25/11/2019
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4. 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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5. Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
Abstract Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate. Recently enzyme replacement therapy (ERT) was approved for MPS IVA, but some of ERT effects are still unknown. In the present stud
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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6. 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
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7. Obstructive Sleep Apnea in MPS: A Systematic Review of Pretreatment and Posttreatment Prevalence and Severity
Abstract The mucopolysaccharidoses (MPSs) are a group of inherited, metabolic disorders characterized by progressive multisystem accumulation of partially degraded glycosaminoglycans. This manifests with multilevel airway obstruction, presenting with obstructive sleep apnea (OSA). We systematically reviewed the literature to determine the severity and preval
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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8. Enzyme Replacement Therapy for Fabry Disease
Abstract Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that leads to the accumulation of abnormal glycolipid. Untreated patients develop potentially lethal complications by age 30 to 50 years. Enzyme replacement therapy is the current standard of therapy for Fabry disease. Two formulations of recombinant human α-galac
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond
Abstract Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates. Patient’s clinical outcomes have significantly improved since the advent of enzyme replacement therapy, even though this therapeutic approach presents important limitations, such as immun
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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10. Small Fiber Neuropathy in Fabry Disease: a Review of Pathophysiology and Treatment
Abstract Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of glycolipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at a young age. Neuropathic pain and pain attacks are often
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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11. Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the e
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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12. Cochleovestibular Manifestations in Fabry Disease
Abstract Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these p
J. inborn errors metab. screen.. Publicado em: 30/05/2019