Judith L Fridovich-Keil

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 14

Top Topics

Chronic Kidney Disease

Extracorporeal Membrane Oxygenation

Top Venues

Journal of inherited metabolic disease

Disease models & mechanisms

This page only lists publications with an associated author ORCID identifier.

Publications

Jennifer M I Daenzer, Jared J Druss, Judith L Fridovich-Keil
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. Journal of inherited metabolic disease (2024)
Olivia S Garrett, Jared J Druss, E Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M Bosch, Estela Rubio-Gozalbo, Gerard T Berry, Judith L Fridovich-Keil
Health and well-being of maturing adults with classic galactosemia. Journal of inherited metabolic disease (2024)
Jared J Druss, Josephine Rudd Zhong Manis, Nancy L Potter, Judith L Fridovich-Keil
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model. Journal of inherited metabolic disease (2023)
Quinton S Katler, Karolina M Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T Berry, Annet M Bosch, Angela DeLaO, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M Estela Rubio-Gozalbo, Michael Saad-Naguib, Sabine Scholl-Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L Fridovich-Keil
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. Journal of inherited metabolic disease 45 (6) (2022)
Sneh Patel, Sara Fridovich-Keil, Shauna A Rasmussen, Judith L Fridovich-Keil
DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB). PloS one 17 (7) (2022)
Jennifer M I Daenzer, Shauna A Rasmussen, Sneh Patel, James McKenna, Judith L Fridovich-Keil
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia. Journal of inherited metabolic disease 45 (2) (2022)
Judith L Fridovich-Keil, Grace Carlock, Sneh Patel, Nancy L Potter, Claire D Coles
Acute and early developmental outcomes of children with Duarte galactosemia. JIMD reports 63 (1) (2021)
Jessica MacWilliams, Sneh Patel, Grace Carlock, Sarah Vest, Nancy L Potter, Judith L Fridovich-Keil
Hand fine motor control in classic galactosemia. Journal of inherited metabolic disease 44 (4) (2021)
Shauna A Rasmussen, Jennifer M I Daenzer, Judith L Fridovich-Keil
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. Journal of inherited metabolic disease 44 (1) (2020)
Shauna A Rasmussen, Jennifer M I Daenzer, Jessica A MacWilliams, S Taylor Head, Martine B Williams, Aron M Geurts, Jason P Schroeder, David Weinshenker, Judith L Fridovich-Keil
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. Journal of inherited metabolic disease 43 (3) (2019)
Judith L Fridovich-Keil, Grace Carlock, Claire D Coles, Mary Ellen Lynch, Molly N Millians, Nancy L Potter, Kimberly Powell, Peter Richards, Rani Singh, Angela Wittenauer
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
S Taylor Fischer, Allison B Frederick, ViLinh Tran, Shuzhao Li, Dean P Jones, Judith L Fridovich-Keil
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study. Journal of inherited metabolic disease 42 (2) (2019)
Allison B Frederick, Alison M Zinsli, Grace Carlock, Karen Conneely, Judith L Fridovich-Keil
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. Journal of inherited metabolic disease 41 (5) (2018)
Jennifer M I Daenzer, Patricia P Jumbo-Lucioni, Marquise L Hopson, Kerry R Garza, Emily L Ryan, Judith L Fridovich-Keil
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. Disease models & mechanisms 9 (11) (2016)