The role of fatty aldehyde dehydrogenase in epidermal structure and function

por Rizzo, William B
Publicado 2011

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

por Rizzo, William B., S'aulis, Dana, Dorwart, Elizabeth, Bailey, Zachary
Publicado 2021

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

por Rush, Eric T, Hartmann, Julianne E, Skrabal, Jill C, Rizzo, William B
Publicado 2014

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

por Rush, Eric T., Goodwin, Jennifer L., Braverman, Nancy E., Rizzo, William B.
Publicado 2016

Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

por Dai, Hongying Daisy, Qiu, Fang, Jackson, Kimberly, Fruttiger, Marcus, Rizzo, William B.
Publicado 2023

Genotype and phenotype variability in Sjögren‐Larsson syndrome

por Weustenfeld, Maximilian, Eidelpes, Reiner, Schmuth, Matthias, Rizzo, William B., Zschocke, Johannes, Keller, Markus A.
Publicado 2018

Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion

por Rizzo, William B., S’Aulis, Dana, Jennings, M. Anitia, Crumrine, Debra A., Williams, Mary L., Elias, Peter M.
Publicado 2010

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

por Baker, Craig V., Cady Keller, Alyssa, Lutz, Richard, Eveans, Karen, Baumert, Krystal, DiPerna, James C., Rizzo, William B.
Publicado 2022

Formation and characterization of lipid droplets of the bovine corpus luteum

por Talbott, Heather A., Plewes, Michele R., Krause, Crystal, Hou, Xiaoying, Zhang, Pan, Rizzo, William B., Wood, Jennifer R., Cupp, Andrea S., Davis, John S.
Publicado 2020

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

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

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

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

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

por Staps, Pippa, Rizzo, William B., Vaz, Frédéric M., Bugiani, Marianna, Giera, Martin, Heijs, Bram, van Kampen, Antoine H. C., Pras‐Raves, Mia L., Breur, Marjolein, Groen, Annemieke, Ferdinandusse, Sacha, van der Graaf, Marinette, Van Goethem, Gert, Lammens, Martin, Wevers, Ron A., Willemsen, Michèl A. A. P.
Publicado 2020

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise...

por Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.
Publicado 2018

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

por Cheung, Warren A., Johnson, Adam F., Rowell, William J., Farrow, Emily, Hall, Richard, Cohen, Ana S. A., Means, John C., Zion, Tricia N., Portik, Daniel M., Saunders, Christopher T., Koseva, Boryana, Bi, Chengpeng, Truong, Tina K., Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J., Gibson, Margaret, Evrony, Gilad, Rizzo, William B., Thiffault, Isabelle, Younger, Scott T., Curran, Tom, Wenger, Aaron M., Grundberg, Elin, Pastinen, Tomi
Publicado 2023