Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype

Brent W. Weston, Ju Li Lin, Joseph Muenzer, H. Scott Cameron, Roland R. Arnold, Hans H. Seydewitz, Ertan Mayatepek, Emile Van Schaftingen, Maria Veiga-Da-Cunha, Dietrich Matern, Y. T. Chen

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Medicine & Life Sciences