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Clinical Liver Disease|January 3, 2022
Hepatic Manifestations of Mendelian Disorders of Cholesterol Biosynthesis and Cellular MetabolismAlanna Strong, Rebecca Ganetzky, Daniel J Rader
Molecular Genetics and Metabolism|December 4, 2021
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomesElizabeth Reynolds, Matthew Byrne, Rebecca Ganetzky, et al.
Molecular Genetics and Metabolism|February 1, 2026
Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosologyMartina Messina, Rebecca Ganetzky, Carlos R Ferreira, et al.
Orphanet Journal of Rare Diseases|February 9, 2022
Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature reviewJessica I Gold, Nina B Gold, Diva D DeLeon, et al.
International Journal of Stem Cells|July 13, 2026
Generation of a Patient-Derived Inducible Pluripotent Stem Cell Model for Studying the YARS2-Related Genetic DiseaseChenbo Zeng, Andrew Gray, Rebecca Ganetzky, et al.
American Journal of Medical Genetics. Part A|August 16, 2022
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literatureHayley A Ron, Rebecca Scobell, Amy Strong, et al.
JIMD Reports|December 29, 2025
Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial DysfunctionHerodes Guzman, Nicole Stewart, Lauren Mitteer, et al.
Research Square|January 9, 2026
Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare Transition and Independent LivingJessica I Gold, Megan Grabill, Karen Dolins, et al.
American Journal of Medical Genetics. Part A|June 3, 2015
Fetal akinesia deformation sequence due to a congenital disorder of glycosylationRebecca Ganetzky, Kosuke Izumi, Andrew Edmondson, et al.
Neurochemistry International|July 23, 2017
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafishJames Byrnes, Rebecca Ganetzky, Richard Lightfoot, et al.
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