Results 91 to 100 of about 1,106 (149)

Deep Brain Stimulation in Classical Galactosemia: A Case‐Report

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1984-1986, November 2025.
Nolwenn Billet, Emile Simon, Chloé Laurencin, Adelaide Jaulent, Paul Jaulent, Teodor Danaila, Stephane Prange, Stephane Thobois   +7 more
wiley   +1 more source

Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia

Molecular Therapy: Methods & Clinical Development
Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term debilitating neurological deficits and primary ovarian insufficiency.
Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai   +16 more
doaj   +1 more source

Classical galactosemia

, 2017
For classical galactosemia, (CG), an autosomal recessive inborn error of galactose metabolism, a galactose-restricted diet is the only available treatment. The diet prevents death in the first weeks of life, but unfortunately does not prevent the occurrence of long-term complications in these patients.
openaire   +1 more source

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. [PDF]

Int J Mol Sci, 2023
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C.   +15 more
europepmc   +1 more source

Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia. [PDF]

Am J Speech Lang Pathol, 2022
Finestack LH, Potter N, VanDam M, Davis J, Bruce L, Scherer N, Eng L, Peter B.   +7 more
europepmc   +1 more source

Harnessing the Power of Purple Sweet Potato Color and <i>Myo</i>-Inositol to Treat Classic Galactosemia. [PDF]

Int J Mol Sci, 2022
Hagen-Lillevik S, Johnson J, Siddiqi A, Persinger J, Hale G, Lai K.   +5 more
europepmc   +1 more source

Sphingolipid depletion suppresses UPR activation and promotes galactose hypersensitivity in yeast models of classic galactosemia. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2022
Pimentel FSA, Machado CM, De-Souza EA, Fernandes CM, De-Queiroz ALFV, Silva GFS, Del Poeta M, Montero-Lomeli M, Masuda CA.   +8 more
europepmc   +1 more source

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia. [PDF]

J Inherit Metab Dis, 2022
Delnoy B, Haskovic M, Vanoevelen J, Steinbusch LKM, Vos EN, Knoops K, Zimmermann LJI, Noga M, Lefeber DJ, Martini PGV, Coelho AI, Rubio-Gozalbo ME.   +11 more
europepmc   +1 more source

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia. [PDF]

HGG Adv, 2022
Peter B, Davis J, Finestack L, Stoel-Gammon C, VanDam M, Bruce L, Kim Y, Eng L, Cotter S, Landis E, Beames S, Scherer N, Knerr I, Williams D, Schrock C, Potter N.   +15 more
europepmc   +1 more source

Classical galactosemia

Classical galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism caused by a severe deficiency of the enzyme galactose-1-phosphate-uridyltransferase (GALT). In affected newborns, ingestion of galactose from breast milk or infant formula causes life-threatening symptoms.
openaire   +2 more sources