Lysosomal Storage Diseases
Mostrando 1-12 de 58 artigos, teses e dissertações.
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1. Lysosomal Storage Diseases
Abstract Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the curre
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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2. The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
Abstract The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspici
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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3. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA r
Genet. Mol. Biol.. Publicado em: 10/06/2019
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4. Lysosomes, Lysosomal Storage Diseases, and Inflammation
Abstract Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease. We know now that lysosomes are involved in numerous biological processes, and abnormalities in lysosomal function may result in a broad range of diseases. This review will briefly discuss the role
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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5. The Link Between Lysosomal Storage Disorders and More Common Diseases
Abstract In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease h
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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6. Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria
Abstract Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance. These advancements have made NBS programs better and have improved the health outcomes of the affected newborn through improvements in accurate ear
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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7. 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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8. Gene Therapy for Lysosomal Storage Disorders: Recent Advances and Limitations
Abstract Lysosomal storage disorders (LSDs) are a group of diseases with multisystemic features. Current treatments have limitations and gene therapy arises as a promising treatment option. Here, we discuss some of the most recent studies for gene therapy in LSD, vectors used, and outcomes. In particular, the approaches used in animal models aiming to correc
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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9. 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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10. Lysosomal diseases: Overview on current diagnosis and treatment
Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or
Genet. Mol. Biol.. Publicado em: 25/04/2019
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11. 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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12. 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