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Newborn Screening: Review of its Impact for Cystinosis.

  • Katharina Hohenfellner
  • , Ewa Elenberg
  • , Gema Ariceta
  • , Galina Nesterova
  • , Neveen A Soliman
  • , Rezan Topaloglu

Research output: Contribution to journalReview articlepeer-review

12 Citations (Web of Science)
Original languageEnglish
JournalCELLS
Volume11
Issue number7
DOIs
Publication statusPublished - 2022

Keywords

  • NEPHROPATHIC CYSTINOSIS
  • CTNS GENE
  • MUTATIONAL SPECTRUM
  • CYSTEAMINE THERAPY
  • CYSTIC-FIBROSIS
  • PHENYLKETONURIA
  • DIAGNOSIS
  • PHENYLALANINE
  • POPULATION
  • GENOTYPE

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