Search Results - "Diddle, Julianna"

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy by Kaczmarczyk, Aneta, Baker, Mark, Diddle, Julianna, Yuzyuk, Tatiana, Valle, David, Lindstrom, Kristin

“…Gyrate atrophy of the choroid and retina (GACR) secondary to deficiency of ornithine aminotransferase (OAT) is a rare autosomal recessive metabolic disorder…”
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Phosphatase-Inert Glucosamine 6‑Phosphate Mimics Serve as Actuators of the glmS Riboswitch by Fei, Xiang, Holmes, Thomas, Diddle, Julianna, Hintz, Lauren, Delaney, Dan, Stock, Alex, Renner, Danielle, McDevitt, Molly, Berkowitz, David B, Soukup, Juliane K

“…The glmS riboswitch is unique among gene-regulating riboswitches and catalytic RNAs. This is because its own metabolite, glucosamine-6-phosphate (GlcN6P),…”
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A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy by Kaczmarczyk, Aneta, Baker, Mark, Diddle, Julianna, Yuzyuk, Tatiana, Valle, David, Lindstrom, Kristin

“…Gyrate atrophy of the choroid and retina (GACR) secondary to deficiency of ornithine aminotransferase (OAT) is a rare autosomal recessive metabolic disorder…”
Get full text