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Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
J Inherit Metab Dis. 2023 Nov;46(6):1131-1138. doi: 10.1002/jimd.12684. Epub 2023 Oct 24.
J Inherit Metab Dis. 2023.
PMID: 37776278
Free PMC article.
Long-term complications in classic galactosemia are not progressive.
Smith NH, Hendrickson ET, Garrett OS, Chernoff RA, Orloff DH, Druss JJ, Stettner NM, Paull NH, Fridovich-Keil JL.
Smith NH, et al. Among authors: druss jj.
Mol Genet Metab. 2023 Nov;140(3):107708. doi: 10.1016/j.ymgme.2023.107708. Epub 2023 Oct 11.
Mol Genet Metab. 2023.
PMID: 37866059
Free PMC article.
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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.
Daenzer JMI, Druss JJ, Fridovich-Keil JL.
Daenzer JMI, et al. Among authors: druss jj.
J Inherit Metab Dis. 2024 Sep;47(5):991-1000. doi: 10.1002/jimd.12774. Epub 2024 Jul 3.
J Inherit Metab Dis. 2024.
PMID: 38960603
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Health and well-being of maturing adults with classic galactosemia.
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL.
Garrett OS, et al. Among authors: druss jj.
J Inherit Metab Dis. 2025 Jan;48(1):e12786. doi: 10.1002/jimd.12786. Epub 2024 Aug 14.
J Inherit Metab Dis. 2025.
PMID: 39143820
Free PMC article.
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