Galactose oxidation using 13c in healthy and galactosemic children

HIGHLIGHTS

  • who: D.R. Resende-Campanholi and colleagues from the Departamento Puericultura e Pediatria, Universidade São Paulo have published the paper: Galactose oxidation using 13C in healthy and galactosemic children, in the Journal: (JOURNAL)
  • what: The authors aimed to assess the level of galactose oxidation in both healthy and galactosemic Brazilian Twenty-one healthy and seven with galactosemia ranging from 1 to 7 years of age were studied. The M1T, IVS3+ +1 and L275fs mutations identified in this study have not been described previously.
  • how: The analysis was carried out in the Laborato . . .

     

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