Judith L. Fridovich-Keil

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