Galactokinase deficiency: lessons from the GalNet registry

M. Estela Rubio-Gozalbo*, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Moeslinger, M. Luz Couce, Aurelie Empain, Can Ficicioglu, Natalia Julia Palacios, Mariela M. De Los Santos De Pelegrin, Isabel A. Rivera, Sabine Scholl-Buergi, Annet M. Bosch, David Cassiman, Didem Demirbas, Matthias Gautschi, Ina Knerr, Philippe Labrune, Anastasia Skouma, Patrick VerlooSaskia B. Wortmann, Eileen P. Treacy, David J. Timson, Gerard T. Berry

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Web of Science)
Original languageEnglish
Pages (from-to)202-210
Number of pages9
JournalGenetics in Medicine
Volume23
Issue number1
Early online date18 Aug 2020
DOIs
Publication statusPublished - Jan 2021

Keywords

  • galactokinase 1 deficiency
  • cataract
  • galactosemias registry
  • GALK1gene variants
  • neonatal complications
  • GALACTOSEMIA
  • ERYTHROCYTES
  • MUTATION
  • VARIANT

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