M. Kjeldsen

发表

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

L. Bolund, O. Faergeman, N. Gregersen, 1995, Clinical genetics.

Characterization of a disease‐causing Glu119‐Lys mutation in the low‐density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

L. Bolund, T. Jensen, B. Andresen, 1994, Human mutation.

Allele‐specific measurement of low‐density lipoprotein receptor transcript levels

L. Bolund, H. Eiberg, S. Kolvraa, 1996, Human mutation.

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene

D. Hougaard, B. Andresen, S. Dobrowolski, 2010, Journal of Inherited Metabolic Disease.

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

R. Wanders, N. Gregersen, F. Wibrand, 2010, Journal of Inherited Metabolic Disease.

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

J. Vockley, D. Babovic‐Vuksanovic, A. Sewell, 2001, Pediatric Research.

Detection of mutations in the COL4A5 gene by SSCP in X‐linked Alport syndrome

G. Matthijs, J. Schmidtke, N. Gregersen, 2001, Human mutation.

A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene

L. Bolund, O. Faergeman, S. Kolvraa, 1994 .

A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene

L. Bolund, O. Faergeman, N. Gregersen, 1994 .

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

E. Schaftingen, M. Veiga-da-Cunha, L. Aagaard, 2021, Journal of inherited metabolic disease.

A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X‐linked hypohidrotic ectodermal dysplasia

N. Gregersen, J. Hertz, I. Juncker, 1998, Clinical genetics.

Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria

J. Christensen, S. Rittig, J. Palmfeldt, 2023, Pediatric nephrology.

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

L. Bolund, P. Bross, T. Jensen, 1994, Biochemical medicine and metabolic biology.