prof. dr. N.M. Verhoeven-Duif
Full Professor
- Section Metabolic Diagnostics
Contact
Research Output (89)
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations
Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Tessadori Federico, Gerrits Johan, Lansu Nico, Zwakenberg Susan, Bakkers Jeroen P W, Zwartkruis Fried J T, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M 1 mrt 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866 11 p.
Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm
Haijes Hanneke A., van der Ham Maria, Prinsen Hubertus C.M.T., Broeks Melissa H., van Hasselt Peter M., de Sain-Van der Velden Monique G.M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 feb 2020, In: International journal of molecular sciences. 21 12 p.
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
Broeks Melissa H., Shamseldin Hanan E., Alhashem Amal, Hashem Mais, Abdulwahab Firdous, Alshedi Tarfa, Alobaid Iman, Zwartkruis Fried, Westland Denise, Fuchs Sabine, Verhoeven-Duif Nanda M., Jans Judith J.M., Alkuraya Fowzan S. 19 sep 2019, In: Human Genetics. 138 , p. 1247-1257 11 p.
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster
Chi Wanhao, Iyengar Atulya S.R., Albersen Monique, Bosma Marjolein, Verhoeven-Duif Nanda M., Wu Chun Fang, Zhuang Xiaoxi 15 sep 2019, In: Human Molecular Genetics. 28 , p. 3126-3136 11 p.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
van Karnebeek Clara D M, Ramos Rúben J, Wen Xiao-Yan, Tarailo-Graovac Maja, Gleeson Joseph G, Skrypnyk Cristina, Brand-Arzamendi Koroboshka, Karbassi Farhad, Issa Mahmoud Y, van der Lee Robin, Drögemöller Britt I, Koster Janet, Rousseau Justine, Campeau Philippe M, Wang Youdong, Cao Feng, Li Meng, Ruiter Jos, Ciapaite Jolita, Kluijtmans Leo A J, Willemsen Michel A A P, Jans Judith J, Ross Colin J, Wintjes Liesbeth T, Rodenburg Richard J, Huigen Marleen C D G, Jia Zhengping, Waterham Hans R, Wasserman Wyeth W, Wanders Ronald J A, Verhoeven-Duif Nanda M, Zaki Maha S, Wevers Ron A 5 sep 2019, In: American Journal of Human Genetics. 105 , p. 534-548 15 p.
Pathophysiology of propionic and methylmalonic acidemias. Part 1:Complications
Haijes Hanneke A., Jans Judith J.M., Tas Simone Y., Verhoeven-Duif Nanda M., van Hasselt Peter M. sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 730-744 15 p.
Pathophysiology of propionic and methylmalonic acidemias. Part 2:Treatment strategies
Haijes Hanneke A., van Hasselt Peter M., Jans Judith J.M., Verhoeven-Duif Nanda M. sep 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 745-761 17 p.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Haijes Hanneke A., de Sain-van der Velden Monique G.M., Prinsen Hubertus C.M.T., Willems Anke P., van der Ham Maria, Gerrits Johan, Couse Madeline H., Friedman Jan M., van Karnebeek Clara D.M., Selby Kathryn A., van Hasselt Peter M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 aug 2019, In: Molecular Genetics and Metabolism. 127 , p. 368-372 5 p.
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism
Ramos Rúben J, Albersen Monique, Vringer Esmee, Bosma Marjolein, Zwakenberg Susan, Zwartkruis Fried, Jans Judith J M, Verhoeven-Duif Nanda M jun 2019, In: Biochimica et biophysica acta-General subjects. 1863 , p. 1088-1097 10 p.
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
Haijes Hanneke A, van der Ham Maria, Gerrits Johan, van Hasselt Peter M, Prinsen Hubertus C M T, de Sain-van der Velden Monique G M, Verhoeven-Duif Nanda M, Jans Judith J M 1 mei 2019, In: Molecular Genetics and Metabolism. 127 , p. 51-57 7 p.