Familial Pompe Disease

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dc.authorscopusid55981945400
dc.authorscopusid8593965900
dc.contributor.authorTecellioglu M.
dc.contributor.authorKamisli O.
dc.date.accessioned2024-08-04T19:59:23Z
dc.date.available2024-08-04T19:59:23Z
dc.date.issued2015
dc.departmentİnönü Üniversitesien_US
dc.description.abstractINTRODUCTION: Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy and respiratory failure develop. The onset may be at the infantile, adolescent or adult period depending on the enzyme level. The CK level is high in almost all patients. The diagnosis is made with enzyme level measurement and genetic analysis.CASE REPORT: We present a family with Pompe disease consisting of the asymptomatic mother and two siblings who presented with muscle weakness and respiratory failure and who had been followed-up with a diagnosis of muscular dystrophy for a long time.en_US
dc.identifier.doi10.5455/medarh.2015.69.342-344
dc.identifier.endpage344en_US
dc.identifier.issn0350-199X
dc.identifier.issue5en_US
dc.identifier.pmid26622091en_US
dc.identifier.scopus2-s2.0-85015668052en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage342en_US
dc.identifier.urihttps://doi.org/10.5455/medarh.2015.69.342-344
dc.identifier.urihttps://hdl.handle.net/11616/90595
dc.identifier.volume69en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofMedical archives (Sarajevo, Bosnia and Herzegovina)en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectacid maltase deficiencyen_US
dc.subjectmyopathyen_US
dc.subjectPompe diseaseen_US
dc.titleFamilial Pompe Diseaseen_US
dc.typeArticleen_US

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