The Department of Clinical Biochemistry continuously contributes to research with development of new assays for diagnosing and monitoring childhood diseases. Furthermore, the department contributes with clinical biochemical analyses in almost all clinical projects involving children at AUH.

Projects in progress
1. Establishment of reference intervals for children
We contribute to ongoing projects which take place under the auspices of the Danish Society for Clinical Biochemistry.
Contact person: Consultant, DMSc., PhD Søren Ladefoged,

2. Coagulation in children
We characterise full blood coagulation and thrombocyte function in healthy children, and examine changes in full blood coagulation and thrombocyte function during and after cardiac surgery. Furthermore, we investigate the effect of haemostatic drugs.
Contact person: Professor, PhD Anne-Mette Hvas,

3. Neonatal sepsis
We examine the best suitable diagnostic markers for diagnosing neonatal sepsis; we use blood from the umbilical cord and venous samples from the children at early and late stages of neonatal sepsis.
Contact person: Professor, PhD Anne-Mette Hvas,

4. Mitochondrial metabolic diseases in children and newborns
We examine children suspected of inborn errors in the mitochondria; especially mutations in genes coding for enzymes involved in fatty acid oxidation and proteins involved in cellular quality control. We receive samples from all over the world; moreover, we obtain all samples suspected to include inborn errors in fatty acid oxidation after postnatal screening at the Statens Serum Institut.
Contact persons: Associate Professor, PhD Rikke Olsen, and Professor, M.D. Niels Gregersen,

5. Inherited vitamin B12 deficiency
We examine children suspected of deficiency in transcobalamin, a transport protein for B12 in serum, which is sometimes involved in vitamin B12 deficiency. We receive samples from all over the world.
Contact person: Professor, DMSc. Ebba Nexø,

6. Vitamin status and nutrition with mother’s milk
We examine for how long newborns can get sufficient vitamin supplythrough mother’s milk alone.
Contact person Vitamin B12: Professor, DMSc. Ebba Nexø,
Contact person Vitamin D: Executive Consultant, Associate Professor, DMSc. Lene Heickendorff,

7. Early diagnosis of inherited diseases
We examine biochemical marker proteins which can be used for prenatal screening for foetal aneuploidy and other chromosomal changes.
Contact person: Associate professor, PhD Niels Tørring,

8. Macrophage-related biomarkers in children
We examine soluble CD163 and other macrophage-related serum-proteins in conditions such as obesity, liver disease, diabetes, and sickle-cell disease in children.
Contact person: Professor, DMSc., PhD Holger Jon Møller,

Can RoTEM® analysis be applied for haemostatic monitoring in paediatric congenital heart surgery? Andreasen JB et al. Cardiol Young. 2011;21:684-91. doi: 10.1017/S1047951111000758.

Cobalamin and haptocorrin in human milk and cobalamin-related variables in mother and child: a 9-mo longitudinal study. Greibe E et al. Am J Clin Nutr. 2013;98:389-95. doi: 10.3945/ajcn.113.058479.

Cobalamin analogues in humans: a study on maternal and cord blood. Hardlei TF et al. PLoS One. 2013;8:e61194. doi: 10.1371/journal.pone.0061194.

Ex-vivo response to blood products and haemostatic agents after paediatric cardiac surgery. Hvas AM et al. Blood Coagul Fibrinolysis. 2013;24:587-92. doi: 10.1097/MBC.0b013e32836029d2.

First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker. Tørring N et al. Reprod Biol Endocrinol. 2010;8:129. doi: 10.1186/1477-7827-8-129.

Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects? Olsen RK et al. Mol Genet Metab. 2013;110 Suppl:S31-9. doi: 10.1016/j.ymgme.2013.10.007.

Kobling? The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function. Magnoni R et al. Free Radic Res. 2013;48:168-179. doi: 10.3109/10715762.2013.858147.

MCAD deficiency in Denmark. Andresen BS et al. Mol Genet Metab. 2012;106:175-88. doi: 10.1016/j.ymgme.2012.03.018.

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. Edhager AV et al. Mol Genet Metab. 2014;111:360-8. doi: 10.1016/j.ymgme.2014.01.007.

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple acyl-CoA dehydrogenation deficiency.
Cornelius N et al. Hum Mol Genet. 2013;22:3819-27. doi: 10.1093/hmg/ddt232.

Soluble CD163 levels in children with sickle cell disease. Moller HJ et al. Br J Haematol. 2011;153:105-10. doi: 10.1111/j.1365-2141.2011.08580.x.

The macrophage activation marker sCD163 is associated with changes in NAFLD and metabolic profile during lifestyle intervention in obese children. Kazankov K et al. Pediatr Obes. 2014 Jul 30. doi: 10.1111/ijpo.252. [Epub ahead of print].

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: A study of two affected siblings, their brother, and their parents. Nissen PH, et al. J Inherit Metab Dis. 2010;33 Suppl 3:S269-74. doi: 10.1007/s10545-010-9145-z.

• Genetic and molecular techniques
• Clinical studies
• Measurement of clinical biochemical parameters in blood and other biological media?liquids
• Special analyses within the field of vitamins, especially vitamin B12 and vitamin D
• Measurement of the proteome and selected protein profiles using mass spectrometry
• Measurement of reactive oxygen and its cellular consequences.

Important collaborators
• The field of coagulation: Research consultant, M.D., PhD Hanne B Ravn, Department of Anaesthesiology and Intensive Care, Aarhus University Hospital.
• Vitamins in milk: Researchers at Department of Endocrinology and Internal Medicine, Aarhus University Hospital, and Professor Lindsay Allen, UC Davis, USA.
• Inborn errors of metabolism: Dr. Allan Meldgaard Lund, Head of Laboratory Flemming Wibrand, and David Hougaard, Center for Inborn Errors of Metabolism, the Rigshospitalet, and Professor Brage Storstein Andresen, Department of Biochemistry and Molecular Biology, University of Southern Denmark.
• The steering committee for INFORM (International Network for Fatty Acid Oxidation Research and Management).