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Molecular Genetics and Metabolism|August 5, 2008
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brainRoberto Buccafusca, Charles P Venditti, Lawrence C Kenyon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 29, 2019
Chronic kidney disease in propionic acidemiaOleg A Shchelochkov, Irini Manoli, Jennifer L Sloan, et al.
Human Molecular Genetics|July 6, 2025
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolismSungkook Hong, Joel Pardo, PamelaSara E Head, et al.
Life Science Alliance|March 30, 2026
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 miceAvani V Mylvara, Alana L Gibson, Tansy Gu, et al.
Molecular Genetics and Metabolism|January 9, 2025
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemiaOleg A Shchelochkov, Huw Davies, Robert P Mohney, et al.
Hepatology (Baltimore, Md.)|September 25, 2020
Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic AcidemiaRandy J Chandler, Leah E Venturoni, Jing Liao, et al.
Journal of Inherited Metabolic Disease|May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemiaIrini Manoli, Abigael Gebremariam, Samantha McCoy, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 3, 2021
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe DiseaseYedda Li, Christopher A Miller, Lauren K Shea, et al.
Blood Cells, Molecules & Diseases|January 1, 1996
Mutation analysis in hereditary hemochromatosisE Beutler, T Gelbart, C West, et al.
Molecular Therapy. Methods & Clinical Development|January 1, 2020
Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage DiseaseHye-Ri Kang, Monika Gjorgjieva, Stephanie N Smith, et al.
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