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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 ...

Full PubMed Review articles matches at NCBI:
12 Free Review Articles 39 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 8 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 102 free, full-text research articles. First few results:
Classical galactosemia patients can achieve high IQ scores.
Last Updated: Aug 05, 2019

Very recently, it was reported that a patient with classical galactosemia and a very high intelligence quotient (IQ) score obtained a university degree. In the present study, two siblings with classical galactosemia (homozygous for Q188R mutation) received upper normal IQ scores when ...

Web medical information produces anxiety in parents of infants with suspected galactosemia.
Last Updated: Aug 27, 2019

Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose ...

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 ...

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102 Free Research Articles 406 Research Articles