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Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
Drosataki, Eleni; Maragkou, Sevasti; Dermitzaki, Kleio; Stavrakaki, Ioanna; Lygerou, Dimitra; Latsoudis, Helen; Pleros, Christos; Petrakis, Ioannis; Zaganas, Ioannis; Stylianou, Kostas.
Afiliação
  • Drosataki E; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Maragkou S; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Dermitzaki K; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Stavrakaki I; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Lygerou D; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Latsoudis H; Foundation for Research and Technology - Hellas, Heraklion, Crete, Greece.
  • Pleros C; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.
  • Petrakis I; Department of Nephrology, Saarland University Medical Center, Homburg, Germany.
  • Zaganas I; Neurogenetics Laboratory Medical School, University of Crete, Heraklion, Greece.
  • Stylianou K; Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece. kstylianu@gmail.com.
BMC Nephrol ; 23(1): 182, 2022 05 12.
Article em En | MEDLINE | ID: mdl-35549682

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cálculos Renais / Alcalose / Insuficiência Renal Crônica / Doença de Dent / Hipercalcemia / Hipopotassemia / Nefrocalcinose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cálculos Renais / Alcalose / Insuficiência Renal Crônica / Doença de Dent / Hipercalcemia / Hipopotassemia / Nefrocalcinose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article