Etablering og drift av nasjonale og regionale diabetesregistre
- Prosjektnummer
- 910020
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Helse Bergen
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Mage, fordøyelse og stoffskifte
- Forskningsaktivitet
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Diabetes 2004 Jan;53(1):221-7.
PMID: 14693719
Atopic disorders and risk of childhood-onset type 1 diabetes in individuals.
Clin Exp Allergy 2004 Feb;34(2):201-6.
PMID: 14987298
A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.
Scand J Clin Lab Invest 2004 Apr;64(2):86-92.
PMID: 15115244
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
N Engl J Med 2004 Apr;350(18):1838-49.
PMID: 15115830
The coping styles of adolescents with type 1 diabetes are associated with degree of metabolic control.
Diabetes Care 2004 Jun;27(6):1313-7.
PMID: 15161781
Nationwide, prospective registration of type 1 diabetes in children aged <15 years in norway 1989-1998: no increase but significant regional variation in incidence.
Diabetes Care 2004 Jul;27(7):1618-22.
PMID: 15220237
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Diabetes 2004 Oct;53(10):2713-8.
PMID: 15448106
[Unexpected and unexplained deaths among young patients with diabetes mellitus]
Tidsskr Nor Laegeforen 2004 Dec;124(23):3064-5.
PMID: 15586189
Insulin injection regimens and metabolic control in an international survey of adolescents with type 1 diabetes over 3 years: results from the Hvidore study group.
Eur J Pediatr 2003 Jan;162(1):22-9. Epub 2002 nov 26
PMID: 12486503
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.
J Clin Endocrinol Metab 2003 Feb;88(2):920-31.
PMID: 12574234
No association between preeclampsia or cesarean section and incidence of type 1 diabetes among children: a large, population-based cohort study.
Pediatr Res 2003 Oct;54(4):487-90. Epub 2003 jun 18
PMID: 12815116
Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers.
Kidney Int 2003 Sep;64(3):793-800.
PMID: 12911528
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
Diabetes 2003 Nov;52(11):2854-60.
PMID: 14578306
Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.
J Diabetes Complications 2003 Nov-Dec;17(6):369-73.
PMID: 14583183
Measuring self-reported, health-related, quality of life in adolescents with type 1 diabetes using both generic and disease-specific instruments.
Acta Paediatr 2003 Oct;92(10):1190-6.
PMID: 14632337
Use of cod liver oil during the first year of life is associated with lower risk of childhood-onset type 1 diabetes: a large, population-based, case-control study.
Am J Clin Nutr 2003 Dec;78(6):1128-34.
PMID: 14668274
Permanent Neonatal Diabetes mellitus due to Glucokinase Deficiency.
In: Matschinsky FM, Magnusson, M (eds): Glucokinase and Glycemic Disease: From basics to novel therapeutics. Front Diabetes. Basel, Karger, 2004, vol 16, pp 65-74.
Glucokinase and the regulation of blood sugar: A mathematical model predicts the threshold for glucose stimulated insulin releas
In: Matschinsky FM, Magnusson M (eds): Glucokinase and glycemic disease: From basics to novel therapeutics. Front. Diabetes. Basel, Karger 2004, vol 16, pp 92-109.
Diagnosis and management of MODY in a pediatric setting
In: Chiarelli F, Dahl-Jørgensen K, Kiess W. Diabetes in childhood and adolescence. In press.
Permanent neonatal diabetes mellitus linked to glucokinase.
In: Magnusson M, and Matschinsky FM. (eds): Glucokinase and glycemic dieases: From the basics to novel therapeutics. In press
Glucokinase and the regulation of blood sugar: A mathematical model predicts the thresold for glucoase stimulated insulin releas
In: Magnusson M, and Matschinsky FM. (eds): Glucokinase and glycemic dieases: From the basics to novel therapeutics. In press
Klinisk molekylærmedisin (4): Koblingsanalyser.
Ped Endokrin. 2003; 16: 34-38
Forskere diskuterte arv og diabetes
Diabetes for helsepersonell 2003; 4: 12-14.
Neonatal diabetes – permanent eller transient?
Paidos, 2003
Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser
Ped Endokrin. 2003; 16: 64-69.
Type 2 diabetes hos barn og ungdom
Diabetes for helsepersonell, in press.
Type 2 diabetes hos barn: et økende problem
Bergens Tidende, in press
Novel mutations and promoter sequence variants of the HNF4A/MODY1 gene in the Norwegian MODY Registry
Abstract, IDF, Paris 2003
Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency an Inborn Error of the Glucose-Insulin Signaling Pathway
Abstract, IDF, Paris 2003
Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency
Abstract, IDF-GD, Lille 2003.
A consanguineous family with severe neonatal hypoglycemia and mutation in the SCHAD gene
Disorders of signaling mechanisms in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003
Neonatal diabetes due to glucokinase deficiency: an inborn error of the glucose-insulin signaling pathway
Disorders of signaling mechanisms in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003
. Diabetic lessons to be learned from the study of inborn errors of metabolism
. Disorders of signaling mechanism in the pancreatic beta-cell (Internasjonalt forskersymposium), Solstrand Fjord Hotel, Os, 19-21/9 2003.
Characterization of MODY3 in Norway and HNF-1alpha transcription factor function
- Disputert:
- mars 2003
- Hovedveileder:
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