Viggiano, E <br/><br/>
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.  [electronic resource] 

 -  Gene  Apr 2015 
 - 112-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1879-0038 
<br/><br/><label>Standard No.: </label>10.1016/j.gene.2015.01.013  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Female<br/>Galactosemias--diagnosis<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Italy<br/>Male<br/>Mutation, Missense<br/>Neonatal Screening<br/>UDPglucose-Hexose-1-Phosphate Uridylyltransferase--genetics<br/>Young Adult