Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents by William B. Rizzo, Dana S'aulis, Elizabeth Dorwart, Zachary Bailey

Get full text

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy by Eric T Rush, Julianne E Hartmann, Jill C Skrabal, William B Rizzo

Get full text

Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways by Hongying Daisy Dai, Fang Qiu, Kimberly Jackson, Marcus Fruttiger, William B. Rizzo

Get full text

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome by William B. Rizzo, Debra A. Craft, Tara Somer, Gael Carney, Juliana Trafrova, Marcia Simon

Get full text

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study by Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo

Get full text

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges by Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo

Get full text

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

Get full text

Pangenome graphs improve the analysis of structural variants in rare genetic diseases by Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

Get full text

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort by Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

Get full text