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

Standard

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

in: J INHERIT METAB DIS, Jahrgang 27, Nr. 2, 2, 2004, S. 279-280.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Peduto, A, Spada, M, Alluto, A, La Dolcetta, M, Ponzone, A & Santer, R 2004, 'A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.', J INHERIT METAB DIS, Jg. 27, Nr. 2, 2, S. 279-280. <http://www.ncbi.nlm.nih.gov/pubmed/15243984?dopt=Citation>

APA

Peduto, A., Spada, M., Alluto, A., La Dolcetta, M., Ponzone, A., & Santer, R. (2004). A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. J INHERIT METAB DIS, 27(2), 279-280. [2]. http://www.ncbi.nlm.nih.gov/pubmed/15243984?dopt=Citation

Vancouver

Peduto A, 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. J INHERIT METAB DIS. 2004;27(2):279-280. 2.

Bibtex

@article{8d75729bae2649608e50d0605cbcec93,
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.",
author = "A Peduto and M Spada and A Alluto and {La Dolcetta}, M and A Ponzone and Ren{\'e} Santer",
year = "2004",
language = "Deutsch",
volume = "27",
pages = "279--280",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "2",

}

RIS

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, A

AU - Spada, M

AU - Alluto, A

AU - La Dolcetta, M

AU - Ponzone, A

AU - Santer, René

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.

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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 27

SP - 279

EP - 280

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 2

M1 - 2

ER -