Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
Daenzer, Jennifer M. I., Rasmussen, Shauna A., Patel, Sneh, McKenna, James, Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.03.2022)
Published in Journal of inherited metabolic disease (01.03.2022)
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Journal Article
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups
Rasmussen, Shauna A., Daenzer, Jennifer M. I., Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Journal Article
Hand fine motor control in classic galactosemia
MacWilliams, Jessica, Patel, Sneh, Carlock, Grace, Vest, Sarah, Potter, Nancy L., Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Journal Article
A galactose‐1‐phosphate uridylyltransferase‐null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue‐specific and longitudinal differences in galactose metabolism
Rasmussen, Shauna A., Daenzer, Jennifer M. I., MacWilliams, Jessica A., Head, S. Taylor, Williams, Martine B., Geurts, Aron M., Schroeder, Jason P., Weinshenker, David, Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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Journal Article
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study
Taylor Fischer, S., Frederick, Allison B., Tran, ViLinh, Li, Shuzhao, Jones, Dean P., Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Katler, Quinton S., Stepien, Karolina M., Paull, Nathan, Patel, Sneh, Adams, Michael, Balci, Mehmet Cihan, Berry, Gerard T., Bosch, Annet M., DeLaO, Angela, Demirbas, Didem, Edman, Julianna, Ficicioglu, Can, Goff, Melanie, Hacker, Stephanie, Knerr, Ina, Lancaster, Kristen, Li, Hong, Mendelsohn, Bryce A., Nichols, Brandi, Rezende Pinto, Wladimir Bocca Vieira, Rocha, Júlio César, Rubio‐Gozalbo, M. Estela, Saad‐Naguib, Michael, Scholl‐Buergi, Sabine, Searcy, Sarah, Souza, Paulo Victor Sgobbi, Wittenauer, Angela, Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2022)
Published in Journal of inherited metabolic disease (01.11.2022)
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Journal Article
Acute and early developmental outcomes of children with Duarte galactosemia
Fridovich‐Keil, Judith L., Carlock, Grace, Patel, Sneh, Potter, Nancy L., Coles, Claire D.
Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
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Journal Article
Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia
Daenzer, Jennifer M I, Druss, Jared J, Fridovich-Keil, Judith L
Published in Journal of inherited metabolic disease (03.07.2024)
Published in Journal of inherited metabolic disease (03.07.2024)
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Journal Article
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia
Frederick, Allison B., Cutler, David J., Fridovich-Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2017)
Published in Journal of inherited metabolic disease (01.11.2017)
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Journal Article
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie, Nancy, Longo, Nicola, Morris, Andrew A. M., Ramirez-Farias, Carlett, Scheweitzer-Krantz, Susanne, Silao, Catherine Lynn T., Vela-Amieva, Marcela, Waisbren, Susan, Fridovich-Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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Journal Article
Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia
Jumbo-Lucioni, Patricia P, Hopson, Marquise L, Hang, Darwin, Liang, Yongliang, Jones, Dean P, Fridovich-Keil, Judith L
Published in Disease models & mechanisms (01.01.2013)
Published in Disease models & mechanisms (01.01.2013)
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Journal Article
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia
Ryan, Emily L., Lynch, Mary Ellen, Taddeo, Elles, Gleason, Tyler J., Epstein, Michael P., Fridovich-Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
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Journal Article
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation
Daenzer, Jennifer M I, Jumbo-Lucioni, Patricia P, Hopson, Marquise L, Garza, Kerry R, Ryan, Emily L, Fridovich-Keil, Judith L
Published in Disease models & mechanisms (01.11.2016)
Published in Disease models & mechanisms (01.11.2016)
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Journal Article
Biomarkers of ovarian function in girls and women with classic galactosemia
Sanders, Rebecca D., B.A, Spencer, Jessica B., M.D., M.Sc, Epstein, Michael P., Ph.D, Pollak, Susan V., B.A, Vardhana, Pratibhasri A., M.D, Lustbader, Joyce W., M.D, Fridovich-Keil, Judith L., Ph.D
Published in Fertility and sterility (01.07.2009)
Published in Fertility and sterility (01.07.2009)
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