E. Christensen

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

G. F. Hoffmann, S. Athanassopoulos, A Burlina et al. · Neuropediatrics · 1996 · 227 citations

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Flemming Juul Hansen, N. Sörensen, John Vissing et al. · Brain · 2007 · 182 citations

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

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medical Diagnostics, Pompe Disease, International Consensus Meeting +10

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

S. Kölker, E. Christensen, James V. Leonard et al. · Journal of Inherited Metabolic Disease · 2007 · 145 citations