Lysosomal Storage Disease
Mostrando 13-24 de 134 artigos, teses e dissertações.
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13. 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
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14. Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mut
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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15. Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available tr
Genet. Mol. Biol.. Publicado em: 23/05/2019
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16. 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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17. Hampered Vitamin B12 Metabolism in Gaucher Disease?
Abstract Untreated vitamin B12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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18. The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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19. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected
Genet. Mol. Biol.. Publicado em: 11/04/2019
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20. Home-Based Care for Patients with Lysosomal Storage Disease: Experiences in Argentina
ABSTRACT Enzyme replacement therapy (ERT) is a long term treatment for patients who suffer from lysosomal storage disease. A transversal descriptive study was conducted to evaluate advantages and disadvantages of a home-based care program for patients with Gaucher, Fabry and Mucopolysaccharidosis II (MPS II) diseases. A survey among patients and nurses invol
J. inborn errors metab. screen.. Publicado em: 07/03/2019
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21. Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Abstract Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme b-glucocerebrosidase, resulting in accumulation of glucocerebroside in tissue macrophages. HGT-GCB-068 was an open-label study designed to explore the efficacy and safety of velaglucerase alfa in children and adolescents with t
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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22. An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Abstract Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomalrecessive,pediatric-onset,neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene. Cerliponase alfa (Brineura®), a recombinant form of human tripeptidyl peptidase-1, was recently developed as a treatment for CLN2 disease. In clinical trials, the primar
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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23. 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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24. 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