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UDP-galactose-4-epimerase in a boy with a trisomy 21

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Gitzelman R (1972) Deficiency of uridine diphosphate galactose-4-epimerase in blood cells of an apparently healthy infant.Helv Pediatr Acta 27: 125–130.

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  • Holton JB, Gillet MG, McFaul R, Young RC (1981) Galactosaemia: A new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.Arch Dis Child 56: 885–887.

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  • Sardharwalla JB, Wraith JE, Bridge C, Fowler B, Roberts SA (1988) A patient with severe type of epimerase deficiency galactosaemia.J Inher Metab Dis 11 (Suppl 2): 249–251.

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Authors and Affiliations

  1. Institute of Child Health, Athens University, Agia Sophia Children's Hospital, 11527, Athens, Greece

    K. H. Schulpis, H. Michelakakis & E. Papakonstantinou

  2. 1st Pediatric's Clinic, Athens University, Agia Sophia Children's Hospital, 11527, Athens, Greece

    E. Charokopos & J. Messaritakis

  3. Dr Von Haunersches Kinderspital, Der Universitat Munchen, Stoffwechsellabor 4, 8000, Munchen, Germany

    Y. Shin

Authors
  1. K. H. Schulpis
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  2. H. Michelakakis
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  3. E. Charokopos
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  4. E. Papakonstantinou
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  5. J. Messaritakis
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  6. Y. Shin
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Schulpis, K.H., Michelakakis, H., Charokopos, E. et al. UDP-galactose-4-epimerase in a boy with a trisomy 21. J Inherit Metab Dis 16, 1059–1060 (1993). https://doi.org/10.1007/BF00711534

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  • DOI: https://doi.org/10.1007/BF00711534

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