title: A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
abstract: A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.
authors.affiliation: Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy. antonella.peduto@unito.it
authors.forename: A
authors.initials: A
authors.lastname: Peduto
authors.forename: M
authors.initials: M
authors.lastname: Spada
authors.forename: A
authors.initials: A
authors.lastname: Alluto
authors.forename: M
authors.initials: M
authors.lastname: La Dolcetta
authors.forename: A
authors.initials: A
authors.lastname: Ponzone
authors.forename: R
authors.initials: R
authors.lastname: Santer
mesh_terms: D005198:Fanconi Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005693:Galactosemias / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D017353:Gene Deletion; D051273:Glucose Transporter Type 2; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D015997:Neonatal Screening
chemical_list: D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins