Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

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dc.authoridOzgul, Riza Koksal -- 0000-0002-0283-635X; , Mustafa -- 0000-0002-1401-5233
dc.contributor.authorKılıç, Mustafa
dc.contributor.authorDursun, Ali
dc.contributor.authorCoşkun, Turgay
dc.contributor.authorTokatlı, Ayşegül
dc.contributor.authorÖzgül, Rıza K.
dc.contributor.authorYücel Yılmaz, Didem
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorDoğru, Deniz
dc.contributor.authorAlehan, Dursun
dc.contributor.authorKadayıfcılar, Sibel
dc.contributor.authorGenç, Aydan
dc.contributor.authorTuran Dizdar, Handan
dc.contributor.authorGönüldas, Burhanettin
dc.contributor.authorSavcı, Sema
dc.contributor.authorSağlam, Melda
dc.contributor.authorAksoy, Cemalettin
dc.contributor.authorArslan, Umut
dc.contributor.authorSivri, Hatice Serap
dc.date.accessioned13.07.201910:50:10
dc.date.accessioned2019-07-16T09:14:53Z
dc.date.available13.07.201910:50:10
dc.date.available2019-07-16T09:14:53Z
dc.date.issued2017
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
dc.description.abstractMucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.
dc.identifier.doi10.1002/ajmg.a.38459
dc.identifier.endpage2967en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue11en_US
dc.identifier.pmid28884960
dc.identifier.scopusqualityQ3
dc.identifier.startpage2954en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.38459
dc.identifier.urihttps://hdl.handle.net/20.500.12451/4195
dc.identifier.volume173en_US
dc.identifier.wosWOS:000413425400010
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectEnzyme Replacement Therapy
dc.subjectGenotype
dc.subjectMucopolysaccharidosis Type VI
dc.subjectOutcome
dc.titleGenotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
dc.typeArticle

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