Judith L. Fridovich-Keil

Department of Human Genetics, Emory University

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2024

Other Publications

Article	Year
Galactosemia: the good, the bad, and the unknown. Journal of cellular physiology\| PubMed ID: 17001680	2006
Ovarian function in girls and women with GALT-deficiency galactosemia. Journal of inherited metabolic disease\| PubMed ID: 20978943	2011
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\| PubMed ID: 25920691	2015
Gastrointestinal Health in Classic Galactosemia. JIMD reports\| PubMed ID: 27363831	2017
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. Disease models & mechanisms\| PubMed ID: 27562100	2016
Drosophila melanogaster Models of Galactosemia. Current topics in developmental biology\| PubMed ID: 28057307	2017
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 adul... Journal of inherited metabolic disease\| PubMed ID: 28695375	2017
Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid. Environment international\| PubMed ID: 28759762	2017
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. Journal of inherited metabolic disease\| PubMed ID: 29721917	2018
Developmental Outcomes in Duarte Galactosemia. Pediatrics\| PubMed ID: 30593450	2019
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\| PubMed ID: 31160755	2019
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\| PubMed ID: 32882063	2021
Hand fine motor control in classic galactosemia. Journal of inherited metabolic disease\| PubMed ID: 33720431	2021
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia. Journal of inherited metabolic disease\| PubMed ID: 34964137	2022
Acute and early developmental outcomes of children with Duarte galactosemia. JIMD reports\| PubMed ID: 35028275	2022
DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB). PloS one\| PubMed ID: 35857792	2022
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. Molecular genetics and metabolism\| PubMed ID: 35882174	2022
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\| PubMed ID: 36093991	2022
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. Molecular genetics and metabolism\| PubMed ID: 36848716	2023
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model. Journal of inherited metabolic disease\| PubMed ID: 37776278	2023
Long-term complications in classic galactosemia are not progressive. Molecular genetics and metabolism\| PubMed ID: 37866059	2023