Judith L. Fridovich-Keil Department of Human Genetics, School of Medicine Emory University Biography Publications Institution JoVE Articles Judith L. Fridovich-Keil has not added a biography. If you are Judith L. Fridovich-Keil and would like to personalize this page please email our Author Liaison for assistance. Publications Long-term Complications in Classic Galactosemia Are Not Progressive Molecular Genetics and Metabolism. Nov, 2023 | Pubmed ID: 37866059 Grip Strength in Patients with Galactosemia and in a Galactose-1-phosphate Uridylyltransferase (GALT)-null Rat Model Journal of Inherited Metabolic Disease. Nov, 2023 | Pubmed ID: 37776278 Racial and Ethnic Diversity of Classic and Clinical Variant Galactosemia in the United States Molecular Genetics and Metabolism. Apr, 2023 | Pubmed ID: 36848716 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. Nov, 2022 | Pubmed ID: 36093991 Pathophysiology of Long-term Complications in Classic Galactosemia: What We Do and Do Not Know Molecular Genetics and Metabolism. 2022 | Pubmed ID: 35882174 DAB-quant: An Open-source Digital System for Quantifying Immunohistochemical Staining with 3,3'-diaminobenzidine (DAB) PloS One. 2022 | Pubmed ID: 35857792 Acute and Early Developmental Outcomes of Children with Duarte Galactosemia JIMD Reports. Jan, 2022 | Pubmed ID: 35028275 Neonatal GALT Gene Replacement Offers Metabolic and Phenotypic Correction Through Early Adulthood in a Rat Model of Classic Galactosemia Journal of Inherited Metabolic Disease. Mar, 2022 | Pubmed ID: 34964137 Hand Fine Motor Control in Classic Galactosemia Journal of Inherited Metabolic Disease. Jul, 2021 | Pubmed ID: 33720431 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. Jan, 2021 | Pubmed ID: 32882063 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. Dec, 2019 | Pubmed ID: 31160755 Developmental Outcomes in Duarte Galactosemia Pediatrics. Jan, 2019 | Pubmed ID: 30593450 Presentation, Progression, and Predictors of Ovarian Insufficiency in Classic Galactosemia Journal of Inherited Metabolic Disease. Sep, 2018 | Pubmed ID: 29721917 Low-level Maternal Exposure to Nicotine Associates with Significant Metabolic Perturbations in Second-trimester Amniotic Fluid Environment International. Oct, 2017 | Pubmed ID: 28759762 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 Journal of Inherited Metabolic Disease. Nov, 2017 | Pubmed ID: 28695375 Drosophila Melanogaster Models of Galactosemia Current Topics in Developmental Biology. 2017 | Pubmed ID: 28057307 Gastrointestinal Health in Classic Galactosemia JIMD Reports. 2017 | Pubmed ID: 27363831 Acute and Long-term Outcomes in a Drosophila Melanogaster Model of Classic Galactosemia Occur Independently of Galactose-1-phosphate Accumulation Disease Models & Mechanisms. Nov, 2016 | Pubmed ID: 27562100 Genetic and Functional Studies Reveal a Novel Noncoding Variant in GALT Associated with a False Positive Newborn Screening Result for Galactosemia Clinica Chimica Acta; International Journal of Clinical Chemistry. Jun, 2015 | Pubmed ID: 25920691 Ovarian Function in Girls and Women with GALT-deficiency Galactosemia Journal of Inherited Metabolic Disease. Apr, 2011 | Pubmed ID: 20978943 Galactosemia: the Good, the Bad, and the Unknown Journal of Cellular Physiology. Dec, 2006 | Pubmed ID: 17001680 Author Spotlight: Assessing Intrathecal Gene Therapy Efficacy in Juvenile Rats Anthony Donsante1, Shauna A. Rasmussen2, Judith L. Fridovich-Keil2 1Department of Neurosurgery, School of Medicine, Emory University, 2Department of Human Genetics, School of Medicine, Emory University JoVE 66463 Neuroscience
Author Spotlight: Assessing Intrathecal Gene Therapy Efficacy in Juvenile Rats Anthony Donsante1, Shauna A. Rasmussen2, Judith L. Fridovich-Keil2 1Department of Neurosurgery, School of Medicine, Emory University, 2Department of Human Genetics, School of Medicine, Emory University JoVE 66463 Neuroscience