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Article: Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 gene

TitleHyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 gene
Authors
Chik, KKChan, CWLam, CWNg, KL
KeywordsHyperammonaemia
Hyperinsulinism
Hypoglycaemia
Issue Date2008
PublisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPC
Citation
Journal Of Paediatrics And Child Health, 2008, v. 44 n. 9, p. 517-519 How to Cite?
DOI: http://dx.doi.org/10.1111/j.1440-1754.2008.01361.x
AbstractCongenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia. © 2008 The Authors.
Persistent Identifierhttp://hdl.handle.net/10722/148577
ISSN
1034-4810
2023 Impact Factor: 1.6
2023 SCImago Journal Rankings: 0.499
ISI Accession Number ID
WOS:000258597200010
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorChik, KKen_US
dc.contributor.authorChan, CWen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorNg, KLen_US
dc.date.accessioned2012-05-29T06:13:50Z-
dc.date.available2012-05-29T06:13:50Z-
dc.date.issued2008en_US
dc.identifier.citationJournal Of Paediatrics And Child Health, 2008, v. 44 n. 9, p. 517-519en_US
dc.identifier.issn1034-4810en_US
dc.identifier.urihttp://hdl.handle.net/10722/148577-
dc.description.abstractCongenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia. © 2008 The Authors.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPCen_US
dc.relation.ispartofJournal of Paediatrics and Child Healthen_US
dc.subjectHyperammonaemia-
dc.subjectHyperinsulinism-
dc.subjectHypoglycaemia-
dc.subject.meshAllosteric Site - Geneticsen_US
dc.subject.meshGlutamate Dehydrogenase - Geneticsen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshHyperammonemia - Etiology - Geneticsen_US
dc.subject.meshHyperglycemia - Geneticsen_US
dc.subject.meshHyperinsulinism - Etiology - Geneticsen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.titleHyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 geneen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.1440-1754.2008.01361.xen_US
dc.identifier.pmid18928469en_US
dc.identifier.scopuseid_2-s2.0-50049121275en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-50049121275&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume44en_US
dc.identifier.issue9en_US
dc.identifier.spage517en_US
dc.identifier.epage519en_US
dc.identifier.isiWOS:000258597200010-
dc.publisher.placeAustraliaen_US
dc.identifier.citeulike3151426-
dc.identifier.issnl1034-4810-

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