A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia

Antonella Peduto, M. Spada, A. Alluto, M. La Dolcetta, A. Ponzone, R. Santer

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 protein.

Original languageEnglish
Pages (from-to)279-280
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number2
DOIs
Publication statusPublished - 2004

Fingerprint

Fanconi Syndrome
Galactosemias
Neonatal Screening
Facilitative Glucose Transport Proteins
Mutation
Genes
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia. / Peduto, Antonella; Spada, M.; Alluto, A.; La Dolcetta, M.; Ponzone, A.; Santer, R.

In: Journal of Inherited Metabolic Disease, Vol. 27, No. 2, 2004, p. 279-280.

Research output: Contribution to journalArticle

Peduto, Antonella ; Spada, M. ; Alluto, A. ; La Dolcetta, M. ; Ponzone, A. ; Santer, R. / A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia. In: Journal of Inherited Metabolic Disease. 2004 ; Vol. 27, No. 2. pp. 279-280.
@article{7396115787eb44e1924e19378855136c,
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 protein.",
author = "Antonella Peduto and M. Spada and A. Alluto and {La Dolcetta}, M. and A. Ponzone and R. Santer",
year = "2004",
doi = "10.1023/B:BOLI.0000028841.00833.f4",
language = "English",
volume = "27",
pages = "279--280",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "2",

}

TY - JOUR

T1 - A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia

AU - Peduto, Antonella

AU - Spada, M.

AU - Alluto, A.

AU - La Dolcetta, M.

AU - Ponzone, A.

AU - Santer, R.

PY - 2004

Y1 - 2004

N2 - 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 protein.

AB - 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 protein.

UR - http://www.scopus.com/inward/record.url?scp=2942616969&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2942616969&partnerID=8YFLogxK

U2 - 10.1023/B:BOLI.0000028841.00833.f4

DO - 10.1023/B:BOLI.0000028841.00833.f4

M3 - Article

C2 - 15243984

AN - SCOPUS:2942616969

VL - 27

SP - 279

EP - 280

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 2

ER -