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The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
Avci Durmusalioglu, Enise; Isik, Esra; Ayyildiz Emecen, Durdugul; Goksen, Damla; Ozen, Samim; Onay, Huseyin; Kose, Melis; Atik, Tahir; Darcan, Sukran; Cogulu, Ozgur; Ozkinay, Ferda.
Afiliação
  • Avci Durmusalioglu E; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Isik E; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Ayyildiz Emecen D; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Goksen D; Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Ozen S; Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Onay H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Kose M; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Atik T; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Darcan S; Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Cogulu O; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Ozkinay F; Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
J Pediatr Endocrinol Metab ; 34(7): 957-960, 2021 Jul 27.
Article em En | MEDLINE | ID: mdl-33823103

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteoporose / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteoporose / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2021 Tipo de documento: Article