Enzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy

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dc.contributor.authorTanzer, F.
dc.contributor.authorBuyukkayhan, Derya
dc.contributor.authorCansu Mutlu, E.
dc.contributor.authorKalender Korkmaz, F.
dc.date.accessioned2024-10-26T17:51:48Z
dc.date.available2024-10-26T17:51:48Z
dc.date.issued2009
dc.departmentSivas Cumhuriyet Üniversitesi
dc.description.abstractPompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. A 4 month-old girl presented with rapid disease progression, exhibiting severe hypotonia, and hypertrophic cardiomyopathy, progressing to respiratory failure by the age of 9 months. Despite its low incidence, infantile Pompe's disease is lethal. The availability of an effective treatment has created an urgent need to improve knowledge and early diagnosis of this disease. The clinical response is variable from patient to patient with a better effect in patients enrolled earlier. The only clinically available therapy for Pompe's disease is enzyme replacement therapy (ERT). Gene therapy is still not available for Pompe's disease due to lack of suitable vectors for long-term and tissue-specific expression. Recombinant human alpha-glucosidase remains a hope for patients. © Freund Publishing House Ltd.
dc.identifier.doi10.1515/JPEM.2009.22.12.1159
dc.identifier.endpage1162
dc.identifier.issn0334-018X
dc.identifier.issue12
dc.identifier.scopus2-s2.0-77349117774
dc.identifier.scopusqualityQ2
dc.identifier.startpage1159
dc.identifier.urihttps://doi.org/10.1515/JPEM.2009.22.12.1159
dc.identifier.urihttps://hdl.handle.net/20.500.12418/26462
dc.identifier.volume22
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherWalter de Gruyter GmbH
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectEnzyme replacement; Infancy; Pompe's disease
dc.titleEnzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy
dc.typeArticle

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