A Zinc sulphate-resistant acrodermatitis enteropathica patient with a novel mutation in SLC39A4 gene

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dc.contributor.authorKılıç, M.
dc.contributor.authorTaşkesen, M.
dc.contributor.authorCoşkun, T.
dc.contributor.authorGürakan, F.
dc.contributor.authorTokatlı, A.
dc.contributor.authorSivri, H. S.
dc.contributor.authorDursun, A.
dc.coverage.doi10.1007/978-3-642-24758-3
dc.date.accessioned2024-04-24T15:59:34Z
dc.date.available2024-04-24T15:59:34Z
dc.date.issued2012
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Anabilim Dalıen_US
dc.description.abstractAcrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc deficiency due to an abnormal intestinal zinc transporter. It is characterized by the triad of acral dermatitis, alopecia, and diarrhoea. Once AE is correctly diagnosed, patients are treated with orally administered zinc sulphate. En some patients, relapses occur during adolescence, despite the regular treatment. Here, we discuss the clinical and molecular features of a 13-year-old adolescent girl with acrodermatitis enteropathica who was resistant to high-dose zinc sulphate therapy. We successfully treated the patient with zinc gluconate and vitamin C, and we detected a novel homozygous c.541_551dup (p.Leu186fsX38) mutation in the exon 3 of her SLC39A4 gene.en_US
dc.identifier.citationKılıç, M., Taşkesen, M., Coskun, T., Gürakan, F., Tokatlı, A., Sivri, H.S. (2012). A zinc sulphate-resistant acrodermatitis enteropathica patient with a novel mutation in SLC39A4 gene. JIMD Reports, 2, 25–28.
dc.identifier.doi10.1007/8904_2011_38
dc.identifier.endpage28en_US
dc.identifier.isbn978-3-642-24757-6
dc.identifier.issn2192-8304
dc.identifier.pmid23430849
dc.identifier.scopus2-s2.0-84980341706
dc.identifier.scopusqualityQ2
dc.identifier.startpage25en_US
dc.identifier.urihttps://doi.org/10.1007/8904_2011_38
dc.identifier.urihttps://hdl.handle.net/11468/14144
dc.identifier.urihttps://link.springer.com/book/10.1007/978-3-642-24758-3
dc.identifier.volume2en_US
dc.identifier.wosWOS:000301089700005
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorTaşkesen, M.
dc.language.isoenen_US
dc.publisherSpringer-Verlag Berlinen_US
dc.relation.ispartofJimd Reports - Case and Research Reports, 2011/2
dc.relation.publicationcategoryKitap Bölümü - Uluslararasıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleA Zinc sulphate-resistant acrodermatitis enteropathica patient with a novel mutation in SLC39A4 geneen_US
dc.titleA Zinc sulphate-resistant acrodermatitis enteropathica patient with a novel mutation in SLC39A4 gene
dc.typeBook Chapteren_US

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