Department of Human Genetics,
School of Medicine,
Department of Human Genetics, School of Medicine
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Galactosemia: the good, the bad, and the unknown.
Journal of cellular physiology Dec, 2006 | Pubmed ID: 17001680
Ovarian function in girls and women with GALT-deficiency galactosemia.
Journal of inherited metabolic disease Apr, 2011 | Pubmed ID: 20978943
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
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
Drosophila melanogaster Models of Galactosemia.
Current topics in developmental biology , 2017 | Pubmed ID: 28057307
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
Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.
Environment international Oct, 2017 | Pubmed ID: 28759762
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.
Journal of inherited metabolic disease Sep, 2018 | Pubmed ID: 29721917
Developmental Outcomes in Duarte Galactosemia.
Pediatrics Jan, 2019 | Pubmed ID: 30593450
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
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
Hand fine motor control in classic galactosemia.
Journal of inherited metabolic disease Jul, 2021 | Pubmed ID: 33720431
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
Acute and early developmental outcomes of children with Duarte galactosemia.
JIMD reports Jan, 2022 | Pubmed ID: 35028275
DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB).
PloS one , 2022 | Pubmed ID: 35857792
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.
Molecular genetics and metabolism , 2022 | Pubmed ID: 35882174
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
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Molecular genetics and metabolism Apr, 2023 | Pubmed ID: 36848716
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
Long-term complications in classic galactosemia are not progressive.
Molecular genetics and metabolism Nov, 2023 | Pubmed ID: 37866059
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