Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

  • Koenraad Veys
  • , Ward Zadora
  • , Katharina Hohenfellner
  • , Detlef Bockenhauer
  • , Mirian C H Janssen
  • , Patrick Niaudet
  • , Aude Servais
  • , Rezan Topaloglu
  • , Martine Besouw
  • , Robert Novo
  • , Dieter Haffner
  • , Nele Kanzelmeyer
  • , Lars Pape
  • , Elke Wühl
  • , Erik Harms
  • , Atif Awan
  • , Przemyslaw Sikora
  • , Gema Ariceta
  • , Bert van den Heuvel
  • , Elena Levtchenko

Research output: Contribution to journalOriginal Articlepeer-review

16 Citations (Web of Science)
Original languageEnglish
Pages (from-to)43-54
Number of pages12
JournalJOURNAL OF INHERITED METABOLIC DISEASE
Volume46
Issue number1
DOIs
Publication statusPublished - Jan 2023

Keywords

  • CYSTEAMINE THERAPY
  • OXIDATIVE STRESS
  • ADAPTATION
  • CHILDREN
  • PROTEIN
  • Cysteamine/therapeutic use
  • Kidney Failure, Chronic/etiology
  • Humans
  • Child, Preschool
  • Fanconi Syndrome/drug therapy
  • Young Adult
  • Adolescent
  • Adult
  • Retrospective Studies
  • Child
  • Cystinosis/drug therapy
  • Infant, Newborn
  • Siblings
  • Cohort Studies

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