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Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile, Giorgia; Beck, Bodo; Acquaviva, Cecile; Rumsby, Gill; Deesker, Lisa; Garrelfs, Sander; Gupta, Asheeta; Bacchetta, Justine; Groothoff, Jaap.
Afiliación
  • Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, TO, Italy.
  • Beck B; Institute of Human Genetics, Center for Molecular Medicine Cologne, and Center for Rare and Hereditary Kidney Disease, University Hospital of Cologne, CologneCologne, Germany.
  • Acquaviva C; Service de Biochimie Et Biologie Moléculaire, Hospices Civils de Lyon, UM Pathologies Héréditaires du Métabolisme Et du Globule Rouge, Lyon, France.
  • Rumsby G; Department of Clinical Biochemistry, University College London Hospitals NHS Foundation Trust | UCLH, Kintbury, UK.
  • Deesker L; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
  • Garrelfs S; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
  • Gupta A; Department of Nephrology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Bacchetta J; Reference Center for Rare Renal Diseases, Pediatric Nephrology-Rheumatology-Dermatology Unit, Hospices Civils de Lyon, Femme Mere Enfant Hospital, Lyon 1 University, Bron, France.
  • Groothoff J; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands. j.w.groothoff@amsterdamumc.nl.
Pediatr Nephrol ; 38(3): 625-634, 2023 03.
Article en En | MEDLINE | ID: mdl-35695965
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hiperoxaluria Primaria Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hiperoxaluria Primaria Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Italia