A New Mutation in Diagnosis of Wolman Disease: Case Report

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dc.authorid0000-0002-7159-4008
dc.authorwosidZübarioğlu, Tanyel/AAG-3957-2019
dc.authorwosidZubarioglu, Tanyel/ABA-9917-2020
dc.authorwosidCansever, Mehmet Serif/AAU-8758-2020
dc.contributor.authorCansever, Mehmet Şerif
dc.contributor.authorAslan, Mine
dc.contributor.authorZubarioglu, Tanyal
dc.date.accessioned2022-05-11T14:47:19Z
dc.date.available2022-05-11T14:47:19Z
dc.date.issued2019
dc.departmentMeslek Yüksekokulları, Sağlık Hizmetleri Meslek Yüksekokulu, Tıbbi Hizmetler ve Teknikler Bölümü
dc.description.abstractWolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, and hepatomegaly subsequently leading to death in infancy. Definite diagnosis is based on genetic confirmation by the LIPA gene sequencing. Several types of mutations, including point mutations, insertions, and deletions, have been reported in LIPA gene. Frameshift mutations are not frequently showed in WD. Here, an 18-day-old female patient in whom the definite diagnosis was made by the LIPA gene sequencing is reported. Genetic analysis resulted in a novel frameshift mutation that has not been reported before.
dc.identifier.doi10.5152/jarem.2019.2221
dc.identifier.endpage152
dc.identifier.issn2146-6505
dc.identifier.issn2147-1894
dc.identifier.issue3en_US
dc.identifier.startpage150
dc.identifier.urihttps://doi.org/10.5152/jarem.2019.2221
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10474
dc.identifier.volume9
dc.identifier.wosWOS:000463858800008
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.institutionauthorCansever, Mehmet Şerif
dc.language.isotr
dc.publisherAves
dc.relation.ispartofJournal of Academic Research in Medicine-Jarem
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectWolman disease
dc.subjectLIPA gene
dc.subjectlysosomal acid lipase
dc.subjectLysosomal Acid Lipase
dc.subjectGene
dc.titleA New Mutation in Diagnosis of Wolman Disease: Case Report
dc.typeArticle

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