Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
|
Posset, Roland; Garbade, Sven F; Boy, Nikolas et al. (2018) Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. J Inherit Metab Dis :
|
Nagamani, Sandesh C S; Agarwal, Umang; Tam, Allison et al. (2018) A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med 20:708-716
|
Sin, Yuan Yan; Ballantyne, Laurel L; Richmond, Christopher R et al. (2018) Transplantation of Gene-Edited Hepatocyte-like Cells Modestly Improves Survival of Arginase-1-Deficient Mice. Mol Ther Nucleic Acids 10:122-130
|
Uittenbogaard, Martine; Brantner, Christine A; Chiaramello, Anne (2018) Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells. Cell Death Dis 9:360
|
Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui et al. (2018) Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Mol Genet Metab 124:71-81
|
Waisbren, Susan E; Cuthbertson, David; Burgard, Peter et al. (2018) Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis 41:657-667
|
Sin, Yuan Yan; Price, Phillipe R; Ballantyne, Laurel L et al. (2017) Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency. Sci Rep 7:2585
|
Shapiro, Elsa; Bernstein, Jessica; Adams, Heather R et al. (2016) Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab 118:65-9
|
Opladen, Thomas; Lindner, Martin; Das, Anibh M et al. (2016) In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Mol Genet Metab 117:19-26
|
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