Yael Sofer

Summary

Publications

  1. ncbi Neurological manifestations of folate transport defect: case report and review of the literature
    Yael Sofer
    Department of Pediatrics C, Schneider Children s Medical Center of Israel, Petach Tikva, Isreal
    J Child Neurol 22:783-6. 2007
  2. doi A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
    Inbal Lasry
    The Fred Wyszkowski Cancer Research Laboratory, Department of Biology, Technion Israel Institute of Technology, Haifa, Israel
    Blood 112:2055-61. 2008

Collaborators

  • Yehuda G Assaraf
  • Inbal Lasry
  • Gerrit Jansen
  • Hanna Bessler
  • Mohamad Sharkia
  • Fabian Glaser
  • Rachel Straussberg
  • Stavit Drori
  • Bluma Berman

Detail Information

Publications2

  1. ncbi Neurological manifestations of folate transport defect: case report and review of the literature
    Yael Sofer
    Department of Pediatrics C, Schneider Children s Medical Center of Israel, Petach Tikva, Isreal
    J Child Neurol 22:783-6. 2007
    ..A clinical picture of developmental arrest, seizures, somnolence, and megaloblastic anemia should alert physicians to the possibility of folate deficiency...
  2. doi A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
    Inbal Lasry
    The Fred Wyszkowski Cancer Research Laboratory, Department of Biology, Technion Israel Institute of Technology, Haifa, Israel
    Blood 112:2055-61. 2008
    ..These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport...