Galactosemia GALT deficiency accounts for about 95% of galactosemias. Although many mutations in the GALT gene have been documented, most cases of GALT deficiency are accounted for by a few http://www.perkinelmergenetics.com/Galactosemia.htm
Galactosaemia Doctor Patient UK Galactosaemia Synonyms galactose-1-phosphate uridyltransferase deficiency, GALT deficiency, GALT, galactose diabetes Although it is a rare inher http://www.patient.co.uk/doctor/Galactosaemia.htm
WV DHHR - OMCFH - Newborn Metabolic Screening - Galactosemia The most common of these, galactose 1phosphate uridyltransferase (GALT) deficiency (OMIM database No. 606999), 81 occurs in approximately 1 in 47000 newborn infants. 82 This http://www.wvdhhr.org/nbms/diseases/Galactosemia.asp
Quantitative Beutler Test For Newborn Mass Screening Of The galactosemia test (fluorescent test for GALT deficiency), supplied by Roche Diagnostics (Boehringer Mannheim), consisted of 0.25 mol/L Trisacetate buffer (pH 8.0), 1.8 mmol/L http://www.clinchem.org/cgi/content/full/46/6/806
AASLD Liver Fast Facts Galactosemia This diet must be continued for years, and in the form associated with GALT deficiency, probably for life. How is galactosemia diagnosed? A high index of suspicion is important in http://www.aasld.org/patients/Pages/LiverFastFactsGalactosemia.aspx
The Online Metabolic And Molecular Bases Of Inherited Disease Home Profound GALT deficiency, termed classic galactosemia, occurs with a frequency of approximately 1 in 30,000 to 1 in 60,000 live births, although this frequency varies over a wide http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherit
Mayo Medical Laboratories The major clinical manifestation is bilateral juvenile. cataracts. when there is a suspicion of galactosemia and GALT deficiency has been. http://www.mayomedicallaboratories.com/test-catalog/search.php?search_type=disea
