Permanent neonatal diabetes in an Asian infant.

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Permanent neonatal diabetes in an Asian infant. / Porter, John; Shaw, Nicholas; Barrett, Timothy; Hattersley, AT; Ellard, S; Gloyn, AL.

In: The Journal of pediatrics, Vol. 146, No. 1, 01.01.2005, p. 131-3.

Research output: Contribution to journalArticle

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Porter, John ; Shaw, Nicholas ; Barrett, Timothy ; Hattersley, AT ; Ellard, S ; Gloyn, AL. / Permanent neonatal diabetes in an Asian infant. In: The Journal of pediatrics. 2005 ; Vol. 146, No. 1. pp. 131-3.

Bibtex

@article{8e4c7d553e9d4e4fa65cbd545860a60d,
title = "Permanent neonatal diabetes in an Asian infant.",
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.",
author = "John Porter and Nicholas Shaw and Timothy Barrett and AT Hattersley and S Ellard and AL Gloyn",
year = "2005",
month = jan,
day = "1",
doi = "10.1016/j.jpeds.2004.09.008",
language = "English",
volume = "146",
pages = "131--3",
journal = "The Journal of pediatrics",
issn = "0022-3476",
publisher = "Elsevier",
number = "1",

}

RIS

TY - JOUR

T1 - Permanent neonatal diabetes in an Asian infant.

AU - Porter, John

AU - Shaw, Nicholas

AU - Barrett, Timothy

AU - Hattersley, AT

AU - Ellard, S

AU - Gloyn, AL

PY - 2005/1/1

Y1 - 2005/1/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.jpeds.2004.09.008

DO - 10.1016/j.jpeds.2004.09.008

M3 - Article

C2 - 15644838

VL - 146

SP - 131

EP - 133

JO - The Journal of pediatrics

JF - The Journal of pediatrics

SN - 0022-3476

IS - 1

ER -