A novel mutation of the GAA gene in a patient with early-onset pompe disease lacking a disease-specific pathology

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dc.authorscopusid56592297600
dc.authorscopusid57193740739
dc.contributor.authorKilic B.
dc.contributor.authorKartal C.A.
dc.date.accessioned2024-08-04T19:59:40Z
dc.date.available2024-08-04T19:59:40Z
dc.date.issued2016
dc.departmentİnönü Üniversitesien_US
dc.description.abstract[No abstract available]en_US
dc.identifier.endpage257en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid29485833en_US
dc.identifier.scopus2-s2.0-85016183953en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage255en_US
dc.identifier.urihttps://hdl.handle.net/11616/90813
dc.identifier.volume27en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEditions Medecine et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectaminotransferaseen_US
dc.subjectcreatine kinaseen_US
dc.subjectglucan 1,4 alpha glucosidaseen_US
dc.subjectalpha glucosidaseen_US
dc.subjectGAA protein, humanen_US
dc.subjectaminotransferase blood levelen_US
dc.subjectcase reporten_US
dc.subjectcreatine kinase blood levelen_US
dc.subjectdisease severityen_US
dc.subjectechocardiographyen_US
dc.subjectenzyme activityen_US
dc.subjectenzyme replacementen_US
dc.subjectgene mutationen_US
dc.subjectgenetic analysisen_US
dc.subjectglycogen storage disease type 2en_US
dc.subjectheart ejection fractionen_US
dc.subjectheart failureen_US
dc.subjecthepatomegalyen_US
dc.subjecthomozygoteen_US
dc.subjecthumanen_US
dc.subjecthypertrophic cardiomyopathyen_US
dc.subjectinfanten_US
dc.subjectLetteren_US
dc.subjectmaleen_US
dc.subjectmissense mutationen_US
dc.subjectmotor developmenten_US
dc.subjectmuscle hypotoniaen_US
dc.subjectmuscle weaknessen_US
dc.subjectneurologic examinationen_US
dc.subjectsystolic heart murmuren_US
dc.subjecttendon reflexen_US
dc.subjectvaginal deliveryen_US
dc.subjectgeneticsen_US
dc.subjectglycogen storage disease type 2en_US
dc.subjectpathologyen_US
dc.subjectpathophysiologyen_US
dc.subjectalpha-Glucosidasesen_US
dc.subjectGlycogen Storage Disease Type IIen_US
dc.subjectHumansen_US
dc.subjectInfanten_US
dc.subjectMaleen_US
dc.subjectMutation, Missenseen_US
dc.titleA novel mutation of the GAA gene in a patient with early-onset pompe disease lacking a disease-specific pathologyen_US
dc.typeLetteren_US

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