A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

Autor: Birkebæk, N. H., Sørensen, J. S., Vikre-Jørgensen, J., Jensen, P. K. A., Pedersen, O., Hansen, T.

Publikováno v: Case Reports in Genetics.

We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father, grandfat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::0748d87b4401bdc2b70e8a3aaf990993

Influence of budesonide on the response to inhaled terbutaline in children with mild asthma.

Autor: Fuglsang, G., Agettoft, L., Vikre-Jørgensen, J., Pedersen, S.

Publikováno v: Pediatric Allergy & Immunology; May1995, Vol. 6 Issue 2, p103-108, 6p

Fetal alcohol spectrum disorders har fået danske kriterier

Autor: Broccia, M., Vikre-Jørgensen, J., Nete Lundager Klokker Rausgaard

Publikováno v: University of Southern Denmark
Broccia, M, Vikre-Jørgensen, J & Rausgaard, N L K 2017, ' Fetal alcohol spectrum disorders har fået danske kriterier ', Ugeskrift for Laeger, bind 179, nr. 32 .
Scopus-Elsevier
Broccia, M, Vikre-Jørgensen, J & Rausgaard, N L K 2017, ' Fetal alcohol spectrum disorders har fået danske kriterier ', Ugeskrift for Laeger, bind 179, nr. 18, V03170202, s. 2-6 .

The Danish Paediatric Society presents the first Danish definition of fetal alcohol spectrum disorders (FASD) in a new guideline. FASD is an umbrella term for conditions caused by prenatal alcohol exposure. To varying degrees, fetal alcohol damages m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::da02a655b0835ebc171dd25cda163c07
https://portal.findresearcher.sdu.dk/en/publications/442525e8-6826-4ee5-ace7-2b8529e5d5a4

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