Affiliation: Karolinska Institutet
- Orlistat treatment in obese prepubertal children: a pilot studyS Norgren
National Childhood Obesity Center and Pediatric Endocrine Research Unit, Department of Pediatrics, Karolinska Institutet and Huddinge University Hospital, Stockholm, Sweden
Acta Paediatr 92:666-70. 2003..This study investigated orlistat treatment in obese prepubertal children with regard to tolerance, safety and psychological well-being...
- Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?E Ristoff
Department of Paediatrics, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden
J Inherit Metab Dis 25:577-84. 2002..7-51.4), we propose that the cultured fibroblasts may have a mechanism to regulate in a coordinated way the levels of GSH and gamma-GC; for instance, by both compounds acting as feedback inhibitors of gamma-GC synthetase...
- Lack of mutations in the TSHr and Gsalpha genes in TSHr antibody negative Graves' diseaseA Elgadi
Department of Pediatrics, Endocrine Research Unit, B 62, Karolinska University Hospital at Huddinge, Stockholm, Sweden
Exp Clin Endocrinol Diabetes 113:516-21. 2005..The results also confirm that somatic gain-of-function TSHr mutations are present in hyperfunctioning follicular adenomas and goiters, but not in non-functioning thyroid lesions...
- Pathophysiological and genetic characterization of the major diabetes locus in GK ratsJ Galli
Karolinska Institute, Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Diabetes 48:2463-70. 1999....
- Cooperative binding of gamma-glutamyl substrate to human glutathione synthetaseR Njalsson
Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, 141 86 Huddinge, Sweden
Biochem Biophys Res Commun 289:80-4. 2001..75, indicating negative cooperativity. Our studies, for the first time, show that human glutathione synthetase is an allosteric enzyme with cooperative binding for gamma-glutamyl substrate...
- Quantitative determination of mdr1 gene expression in leukaemic cells from patients with acute leukaemiaA Gruber
Division of Medicine, Karolinska Hospital, Stockholm, Sweden
Br J Cancer 66:266-72. 1992..Expression of the mdr1 gene could be one of several equally important factors contributing to drug resistance in acute leukaemia...
- Effects of growth hormone treatment on the leptin system and body composition in obese prepubertal boysA Elimam
Department of Paediatrics, Huddinge University Hospital, Karolinska Institutet, Stockholm, Sweden
Acta Paediatr 90:520-5. 2001..Whether GH affects leptin production or metabolism needs further study...
- Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type IIB Malmgren
Department of Pediatrics, Pediatric Endocrine Research Unit, B62, Huddinge University Hospital, Karolinska Institutet, SE 141 86 Stockholm, Sweden
Hum Genet 114:491-8. 2004..The clinical and radiographic disturbances and DDS were more severe in Family B. The data indicate the presence of a genotype-phenotype correlation in DI type II...
- Type 1 diabetic serum interferes with pancreatic beta-cell Ca2+-handlingN Dekki
The Rolf Luft Research Center for Diabetes and Endocrinology, Karolinska Institutet, Karolinska University Hospital, L1, Stockholm, 171 76, Sweden
Biosci Rep 27:321-6. 2007..In a defined subgroup of patients with type 1 diabetes and first-degree relatives a defect Ca(2+)-handling may aggravate development of beta-cell destruction...
- Kinetic properties of missense mutations in patients with glutathione synthetase deficiencyR Njalsson
Department of Paediatrics, B57, Karolinska Institutet, Huddinge University Hospital, S 141 86 Huddinge, Sweden
Biochem J 349:275-9. 2000..Thus our data indicate that different mutations can affect the catalytic capacity of GS by decreasing substrate affinity, maximal velocity or enzyme stability...