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

9 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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