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Galactosemia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Galactosemia" returned 12 free, full-text review articles. First few results:
Hereditary galactosemia.
Last Updated: Jan 28, 2019

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in ...

[Diet treatment of classical galactosemia].
Last Updated: Dec 27, 2017

Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is ...

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.
Last Updated: Jan 07, 2019

Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn ...

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12 Free Review Articles 38 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Galactosemia" returned 5 free, full-text editorial articles. First few results:
Classic Galactosemia: Indian Scenario.
Last Updated: Dec 02, 2018

Full PubMed Editorials matches at NCBI:
5 Free Editorials 7 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Galactosemia" returned 101 free, full-text research articles. First few results:
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Last Updated: Apr 15, 2019

Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give ...

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Last Updated: Jun 20, 2019

Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a correlation between RBC GAL1P and ...

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.
Last Updated: Mar 18, 2019

Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical outcome early in life. The aim of this study was to develop ...

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101 Free Research Articles 397 Research Articles