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.

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; A. PONZONE; SANTER R. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 27(2)(2004), pp. 279-280.

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

SPADA, MARCO;ALLUTO, Alessandra;PONZONE, Alberto;
2004

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.
27(2)
279
280
PEDUTO A; SPADA M; ALLUTO A; LA DOLCETTA M; A. PONZONE; SANTER R
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/8423
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