Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.

@article{Ficicioglu2008DuarteG,
  title={Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.},
  author={Can Ficicioglu and Nina A Thomas and Claire Yager and Paul R. Gallagher and Christie Hussa and Andrea Mattie and Debra L. Day-Salvatore and Brian John Forbes},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={95 4},
  pages={
          206-12
        }
}
UNLABELLED Newborn screening for galactosemia has shown a high prevalence of partial galactose uridyl transferase deficiencies such as Duarte (DG) galactosemia. STUDY OBJECTIVE To determine whether (a) there is any clinical impact of DG galactosemia on development (b) there is a relationship between outcome and biochemical parameters in patients who receive no treatment. STUDY POPULATION Twenty-eight children with DG galactosemia. Group-I-17 children had a lactose restricted diet in the… CONTINUE READING
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References

Publications referenced by this paper.
SHOWING 1-10 OF 19 REFERENCES

Galactosemia

  • J. B. Holton, J. H. Walter, L. A. Tyfield
  • in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D…
  • 2001
Highly Influential
6 Excerpts

S

  • C. Ficicioglu, P. Kaplan
  • Segal, G.T. Berry, Bilateral Cataracts in a 38…
  • 2004
1 Excerpt

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