Berthil H.C.M.T. Prinsen

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Jürgen Lübbehusen, Christian Thiel, Nina Rind et al. · Human Molecular Genetics · 2010 · 105 citations · Full text

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

Robert Bandsma, Berthil H.C.M.T. Prinsen, Monique de Sain-van der Velden et al. · Pediatric Research · 2008 · 84 citations · Full text

Metabolic Syndrome, Large Vldl, Biochemistry +8

Transferrin Synthesis Is Increased in Nephrotic Patients Insufficiently to Replace Urinary Losses

Berthil H.C.M.T. Prinsen, Monique G.M. de Sain–van der Velden, George A. Kaysen et al. · Journal of the American Society of Nephrology · 2001 · 70 citations

Differences between acylcarnitine profiles in plasma and bloodspots

Monique G.M. de Sain–van der Velden, Eugène F. Diekman, Judith Jans et al. · Molecular Genetics and Metabolism · 2013 · 67 citations

Medicine, Bioanalysis, Hematology +6

Quantification of free and total sialic acid excretion by LC–MS/MS

Maria van der Ham, Berthil H.C.M.T. Prinsen, J. G. M. Huijmans et al. · Journal of Chromatography B · 2006 · 65 citations

Biochemistry, Separation Science, Medicine +9