N. Gregersen

A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women

Bente Langdahl, Jane Knudsen, Henrik Kjærulf Jensen et al. · Bone · 1997 · 215 citations

Bone Disease, Bone Morphogenic Protein, Sequence Variation +10

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

Steen Kølvraa, N. Gregersen, E. Christensen et al. · Clinica Chimica Acta · 1982 · 167 citations

C6-c10-dicarboxylic Aciduria, Urology, Hepatology +5

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

Søren Rittig, Gary L. Robertson, C. Siggaard et al. · PubMed · 1996 · 151 citations

C6—C10-Dicarboxylic Aciduria: Investigations of a Patient with Riboflavin Responsive Multiple Acyl-CoA Dehydrogenation Defects

N. Gregersen, H Wintzensen, Steen-Erik Christensen et al. · Pediatric Research · 1982 · 119 citations · Full text

Urology, Inherited Metabolic Disease, C6—c10-dicarboxylic Aciduria +2

VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

Avihu Boneh, Brage Storstein Andresen, N. Gregersen et al. · Molecular Genetics and Metabolism · 2006 · 102 citations

Developmental Anomaly, Newborn Screening, Genetic Disorder +10