Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

by Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson
Published 2020-05-01

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.

by Kara R Vogel, Garrett R Ainslie, Erwin E Jansen, Gajja S Salomons, Jean-Baptiste Roullet, K Michael Gibson
Published 2017-01-01

Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice

by Madalyn N. Brown, K. Michael Gibson, Michelle A. Schmidt, Dana C. Walters, Erland Arning, Teodoro Bottiglieri, Jean‐Baptiste Roullet
Published 2020-11-01

Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

by Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko
Published 2014-01-01

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects

by Dana C. Walters, Erwin E. W. Jansen, Garrett R. Ainslie, Gajja S. Salomons, Madalyn N. Brown, Michelle A. Schmidt, Jean‐Baptiste Roullet, K. M. Gibson
Published 2019-02-01

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

by Mousumi Bose, Meena Mahadevan, Dana R. Schules, Rory K. Coleman, Kelly M. Gawron, Melissa B. Gamble, Jean-Baptiste Roullet, K. Michael Gibson, William B. Rizzo
Published 2019-06-01

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

by Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson
Published 2020-09-01

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

by Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo
Published 2020-12-01