Mechanistic studies of SCHAD deficiency - a novel link between fatty acid oxidation and insulin secretion
- Prosjektnummer
- 911271
- Ansvarlig person
- Tone Sandal
- Institusjon
- Universitetet i Bergen
- Prosjektkategori
- Forskerutdanning - postdoc
- Helsekategori
- Metabolic and Endocrine
- Forskningsaktivitet
- 2. Aetiology
Role of molecular genetics in transforming diagnosis of diabetes mellitus.
Expert Rev Mol Diagn 2011 Apr;11(3):313-20.
PMID: 21463240
Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.
BMC Endocr Disord 2010;10():16. Epub 2010 sep 23
PMID: 20863361
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Clin Genet 2009 May;75(5):440-8.
PMID: 19475716
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Eur J Endocrinol 2008 Jul;159(1):27-34. Epub 2008 mai 1
PMID: 18450771
The molecular genetics and pathophysiology of congenital hyperinsulinism caused by SCHAD deficiency.
in Monogenic Hyperinsulinemic Hypoglycemia Disorders (Eds. Stanley CA), Karger 2011
Mutational screening of the ABCC8 and KCNJ11 genes in Norwegian patients with congenital hyperinsulinism of infancy.
Abstract presentation, EASD Meeting, Rome 2008
Congenital hyperinsulinism: Genetic etiology in the Norwegian population.
Abstract/Oral presentation at Gades Institute Fagdag, Bergen 2008
Congenital hyperinsulinism: Genetic etiology in the Norwegian population.
Abstract/Oral presentation at Posterdag; Gades-Biomedisin, Bergen 2008
Utredning og behandling av medfødt hyperinsulinisme.
Pediatrisk Endokrinologi 2008; 22:37-43
Mutational screening of patients with congenital hyperinsulinism or autoantibody-negative T1 diabetes
EASD Study Group on Genetics in Diabetes, Malaga , 2007
Mechanistic studies of SCHAD deficiency
ESPE Advanced Seminar in Developmental Endocrinology 2007, Paris, France
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest