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A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Yildiz, Çisem; Gezgin Yildirim, Deniz; Inci, Asli; Tümer, Leyla; Cengiz Ergin, Filiz Basak; Sunar Yayla, Emine Nur Sunar; Esmeray Senol, Pelin; Karaçayir, Nihal; Egritas Gürkan, Ödül; Okur, Ilyas; Ezgü, Fatih S; Bakkaloglu, Sevcan A.
Afiliação
  • Yildiz Ç; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey.
  • Gezgin Yildirim D; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey.
  • Inci A; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Tümer L; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Cengiz Ergin FB; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Sunar Yayla ENS; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey.
  • Esmeray Senol P; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey.
  • Karaçayir N; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey.
  • Egritas Gürkan Ö; Department of Pediatric Gastroenterology and Hepatology, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Okur I; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Ezgü FS; Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
  • Bakkaloglu SA; Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara 06560, Turkey. Electronic address: sevcan@gazi.edu.tr.
Joint Bone Spine ; 90(1): 105490, 2023 01.
Article em En | MEDLINE | ID: mdl-36410683
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência de Mevalonato Quinase / Doenças Hereditárias Autoinflamatórias Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência de Mevalonato Quinase / Doenças Hereditárias Autoinflamatórias Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article