Galactosemias

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Recent Publications on Galactosemias:
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family. Classic galactosaemia is a potentially lethal inborn error of metabolism...	24th June, 2008	Department of Human Genetics, Emory University School of Medicine,	J Inherit Metab Dis. 2008 Feb;31(1):97-107. Epub 2008 Jan 22. DOI Direct Link
Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia. Type III galactosaemia is a hereditary disease caused by reduced activity...	24th June, 2008	Department of Human Genetics, Emory University School of Medicine, Emory	J Inherit Metab Dis. 2008 Feb;31(1):108-16. Epub 2008 Jan 14. DOI Direct Link
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. Classical galactosemia is an autosomal recessive disorder caused by a...	20th June, 2008	Centre de Reference des Maladies Hereditaires du Metabolisme et Inserm	J Hepatol. 2008 Mar;48(3):517-22. Epub 2007 Dec 31. DOI Direct Link
Diagnosis of inherited disorders of galactose metabolism. Galactose metabolism occurs through an evolutionarily conserved pathway in...	28th May, 2008	Leonard Miller School of Medicine, University of Miami, Miami, Florida,	Curr Protoc Hum Genet. 2008 Jan;Chapter 17:Unit 17.5. DOI Direct Link
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder] In three young patients who presented with bilateral cataracts the cause...	13th May, 2008	Universitair Medisch Centrum Utrecht, divisie Kinderen, Huispost KC	Ned Tijdschr Geneeskd. 2008 Mar 15;152(11):632-6.
→View more research publications.

Galactosemias Clinical Trials:
Inactive FSH in Galactosemia	Galactosemia;   Premature Ovarian Failure
The Early History of Universal Screening for Metabolic Disorders	Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism

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