Galactosemia Latest Advances

Find the Latest Research About Galactosemia

Last Updated: 02/24/2026

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Found 2889 publications

Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia.

Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia.

Journal: Psychiatria polska
Published: December 17, 2025

An update on clinical practice for Duarte galactosemia.

An update on clinical practice for Duarte galactosemia.

Journal: Molecular genetics and metabolism
Published: December 11, 2025

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

Journal: The American journal of case reports
Published: November 03, 2025

Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.

Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.

Journal: Acta gastro-enterologica Belgica
Published: October 13, 2025

Galactose mutarotase deficiency as the galactosemia type IV.

Galactose mutarotase deficiency as the galactosemia type IV.

Journal: Journal of human genetics
Published: October 03, 2025

Translating the Power of Precision Medicine Into the World of Communication Disorders.

Translating the Power of Precision Medicine Into the World of Communication Disorders.

Journal: Journal of speech, language, and hearing research : JSLHR
Published: September 24, 2025

Current research on plant-based milk alternatives and impact on health.

Current research on plant-based milk alternatives and impact on health.

Journal: Advances in food and nutrition research
Published: September 12, 2025

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.

Journal: International journal of neonatal screening
Published: September 11, 2025

Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia.

Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia.

Journal: Journal of inherited metabolic disease
Published: September 04, 2025

Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study.

Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study.

Journal: Biomedicines
Published: July 29, 2025

Evaluation of pre-analytical and analytical variables affecting galactose-1-phosphate uridyltransferase assay performance in the diagnosis of classical galactosemia.

Evaluation of pre-analytical and analytical variables affecting galactose-1-phosphate uridyltransferase assay performance in the diagnosis of classical galactosemia.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 11, 2025

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.

Journal: International journal of neonatal screening
Published: June 25, 2025
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Last Updated: 02/24/2026