A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG)

molecular basis, clinical phenotype, and therapeutic approach

  • Dörre, K.
  • Olczak, M.
  • Wada, Y.
  • Sosicka, P.
  • Grüneberg, M.
  • Reunert, J.
  • Kurlemann, G.
  • Fiedler, B.
  • Biskup, S.
  • Hörtnagel, K.
  • Rust, S.
  • Marquardt, T.

  • 1Universitätsklinikum MünsterKlinik für Kinder‐und JugendmedizinAlbert‐Schweitzer‐Campus 1Muenster48149 Germany

    2Laboratory of Biochemistry, Faculty of BiotechnologyUniversity of WroclawWroclaw Poland

    3Osaka Medical Center and Research Institute for Maternal and Child Health840 Murodo‐choIzumiOsaka594‐1101 Japan

    4Praxis für Humangenetik und CeGaT GmbHTübingen Germany

Telephone: +49 251 835 8519, [email protected]

Received May 30, 2014

Received in revised form February 10, 2015

Accepted February 13, 2015

Journal of Inherited Metabolic Diseases 38(5):p 931-940, September 2015. | DOI: 10.1007/s10545-015-9828-6
Copyright © 2015 John Wiley & Sons, Ltd
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