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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.
Emecen Sanli, Merve; Cengiz, Basak; Kilic, Ayse; Ozsaydi, Ekin; Inci, Asli; Okur, Ilyas; Tumer, Leyla; Lebigot, Elise; Ezgu, Fatih.
Afiliação
  • Emecen Sanli M; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Cengiz B; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Kilic A; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Ozsaydi E; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Inci A; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Okur I; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Tumer L; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
  • Lebigot E; Bicêtre Hospital, AP-HP, Biochemistry Department, 94275 Le Kremlin-Bicêtre, France.
  • Ezgu F; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.
J Pediatr Endocrinol Metab ; 35(4): 497-503, 2022 Apr 26.
Article em En | MEDLINE | ID: mdl-35179010
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Frutose-1,6-Difosfatase / Mutação INDEL Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Frutose-1,6-Difosfatase / Mutação INDEL Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article