Dr. H.C.M.T. Prinsen

Aandachtsgebieden

• Erfelijke metabole ziekten
• Metabolomics
• Kwaliteit (ISO15189)

Afdelingen / poliklinieken

Metabole diagnostiek, afdeling Genetica

Wetenschappelijk onderzoek en publicaties

Publicaties

5 key publications

•  L Regal, PM van Hasselt, F. Foulquier, I Cuppen, HCMT Prinsen, K Jansen, L Keldermans, L de Meirleir, G. Matthijs, J Jaeken. ALG11-CDG: Three novel mutations and further characterization of the phenotype. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003.
• Monique GM de Sain- van der Velden, Maria van der Ham; Judith  J Jans , PhD; Gepke  Visser , MD, PhD; Peter  M van Hasselt , MD, PhD; Hubertus  C Prinsen , PhD; Nanda M Verhoeven-Duif , PhD. Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots . Anal Chim Acta. 2015 Jan 1;853:435-41.
• HCMT Prinsen, NE Holwerda-Loof, MG de Sain-van der Velden, G Visser, NM Verhoeven-Duif: Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood. Clin Biochem. 2013 Sep;46(13-14):1272-5. doi: 10.1016/j.clinbiochem.2013.05.054.
• KM Heitink-Pollé, BH Prinsen, TJ de Koning, PM van Hasselt, MB Bierings. High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase. JIMD Rep. 2013;7:103-8. doi: 10.1007/8904_2012_156.
• J Lübbehusen, C Thiel, N Rind, D Ungar, BH Prinsen, TJ de Koning, PM van Hasselt, C Körner. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet. 2010 Sep 15;19(18):3623-33. doi: 10.1093/hmg/ddq278.