Permanent neonatal diabetes in an Asian infant - 15/08/11
Doi : 10.1016/j.jpeds.2004.09.008
J.R. Porter, MBBS ⁎ 
, N.J. Shaw, MBChB, T.G. Barrett, MBBS, PhD, A.T. Hattersley, BMBCh, DM, S. Ellard, PhD, A.L. Gloyn, D. Phil
, N.J. Shaw, MBChB, T.G. Barrett, MBBS, PhD, A.T. Hattersley, BMBCh, DM, S. Ellard, PhD, A.L. Gloyn, D. Phil From the Diabetes Home Care Unit, Birmingham Children's Hospital, Birmingham, United Kingdom; and the Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
Reprint requests: Dr John Porter, Diabetes Home Care Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.Abstract |
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.
Le texte complet de cet article est disponible en PDF.Mots-clés : MODY, PNDM
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| Supported by Diabetes UK RD Lawrence Fellowship (ALG), a Diabetes UK Clinical Training Fellowship (JRP), and Wellchild. |
© 2005
Elsevier Inc. Tous droits réservés.
Vol 146 - N° 1
P. 131-133 - janvier 2005 Retour au numéro
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