International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

@inproceedings{Welling2016InternationalCG,
  title={International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up},
  author={Lindsey Welling and Laurie Bernstein and Gerard Thomas Berry and Alberto B. Burlina and François Eyskens and Matthias Gautschi and Stephanie Gr{\"u}newald and Cynthia Sophia Gubbels and Ina Knerr and Philippe Labrune and Johanna H. van der Lee and Anita Macdonald and Elaine Murphy and Pat A. Portnoi and Katrin {\~O}unap and Nancy L. Potter and M E Rubio-Gozalbo and Jessica B. Spencer and I. M. Timmers and Eileen P Treacy and Sandra C. van Calcar and Susan E Waisbren and Annet Maria Bosch},
  booktitle={Journal of Inherited Metabolic Disease},
  year={2016}
}
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using… CONTINUE READING

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Shortterm exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia

  • HH Huidekoper, AM Bosch, SN Van Der Crabben
  • Mol Genet Metab 84:265–272
  • 2005
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