Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

by J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee
Published 2021-06-01

Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis

by Christina G. Tise, Leslie E. Anforth, Albert E. Zhou, James A. Perry, Patrick F. McArdle, Elizabeth A. Streeten, Alan R. Shuldiner, Laura M. Yerges-Armstrong
Published 2017-03-01

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases

by Christina G. Tise, James A. Perry, Leslie E. Anforth, Mary A. Pavlovich, Joshua D. Backman, Kathleen A. Ryan, Joshua P. Lewis, Jeffrey R. O’Connell, Laura M. Yerges-Armstrong, Alan R. Shuldiner
Published 2016-09-01