The University of Southampton
×
Filter your search:
University of Southampton Institutional Repository

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children
We report a series of patients with transient neonatal diabetes mellitus (TNDM). Paternal uniparental isodisomy of chromosome 6 and heterozygous KCNJ11 and ABC88 mutation were the mutations found. This first reported series of Brazilian patients expands the geographical data on TNDM contributing to better understanding of its pathophysiology.
transient neonatal diabetes, mellitus, newborn, uniparental isodisomy
0168-8227
e41-e44
Alves, Cresio
99cf41a3-ee86-4a48-b827-bb030107d785
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Mackay, Deborah J
588a653e-9785-4a00-be71-4e547850ee4a
Alves, Cresio
99cf41a3-ee86-4a48-b827-bb030107d785
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Mackay, Deborah J
588a653e-9785-4a00-be71-4e547850ee4a

Alves, Cresio, Flanagan, Sarah E., Ellard, Sian and Mackay, Deborah J (2012) Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. Diabetes Research and Clinical Practice, 97 (3), e41-e44. (doi:10.1016/j.diabres.2012.05.025). (PMID:22749773)

Record type: Article

Abstract

We report a series of patients with transient neonatal diabetes mellitus (TNDM). Paternal uniparental isodisomy of chromosome 6 and heterozygous KCNJ11 and ABC88 mutation were the mutations found. This first reported series of Brazilian patients expands the geographical data on TNDM contributing to better understanding of its pathophysiology.

This record has no associated files available for download.

More information

e-pub ahead of print date: 30 June 2012
Published date: September 2012
Related URLs:
Keywords: transient neonatal diabetes, mellitus, newborn, uniparental isodisomy
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 340870
URI: http://eprints.soton.ac.uk/id/eprint/340870
DOI: doi:10.1016/j.diabres.2012.05.025
ISSN: 0168-8227
PURE UUID: cd121efc-3048-4bd1-9eff-c85be3bbb346
ORCID for Deborah J Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 04 Jul 2012 15:48
Last modified: 15 Mar 2024 03:01

Export record

Altmetrics

Contributors

Author: Cresio Alves
Author: Sarah E. Flanagan
Author: Sian Ellard
Author: Deborah J Mackay ORCID iD

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Library staff additional information
Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×