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Authordc.contributor.authorCabello Andrade, Juan Francisco 
Authordc.contributor.authorMarsden, Deborah 
Admission datedc.date.accessioned2019-05-29T13:57:49Z
Available datedc.date.available2019-05-29T13:57:49Z
Publication datedc.date.issued2017
Cita de ítemdc.identifier.citationOrphan Drugs: Research and Reviews 2017:7 1–10
Identifierdc.identifier.issn22306161
Identifierdc.identifier.other10.2147/ODRR.S69109
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/169145
Abstractdc.description.abstractPompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease). A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease). The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred.
Lenguagedc.language.isoen
Publisherdc.publisherDove Medical
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
Sourcedc.sourceOrphan Drugs: Research and Reviews
Keywordsdc.subjectChaperone therapy
Keywordsdc.subjectEnzyme replacement therapy
Keywordsdc.subjectGene therapy
Keywordsdc.subjectGenotype/phenotype
Keywordsdc.subjectGlycogen storage disease
Keywordsdc.subjectLysosomal storage disease
Keywordsdc.subjectNewborn screening
Keywordsdc.subjectPompe disease
Títulodc.titlePompe disease: Clinical perspectives
Document typedc.typeArtículo de revista
Catalogueruchile.catalogadorlaj
Indexationuchile.indexArtículo de publicación SCOPUS
uchile.cosechauchile.cosechaSI


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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile