Hereditary galactosemia

Didem Demirbas, Ana I. Coelho, M. Estela Rubio-Gozalbo, Gerard T. Berry

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)188-196
Number of pages9
JournalMetabolism-Clinical and Experimental
Volume83
DOIs
Publication statusPublished - 1 Jun 2018

Keywords

  • Galactose
  • Lactose
  • Galactosemia
  • Genetics
  • Metabolism
  • GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
  • MAGNETIC-RESONANCE-SPECTROSCOPY
  • URIDINE-DIPHOSPHATE GALACTOSE
  • PRIMARY OVARIAN INSUFFICIENCY
  • CLASSIC GALACTOSEMIA
  • GALT GENE
  • MOLECULAR-BASIS
  • METABOLIC-DISORDERS
  • Q188R MUTATION
  • HYPERGONADOTROPIC HYPOGONADISM

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