Wij zijn onze website aan het vernieuwen.

Ontdekt u nog een pagina die niet klopt of hebt u een goede suggestie, laat het ons dan weten via webmedia@umcutrecht.nl.

Deze website maakt gebruik van cookies

Deze website toont video’s van o.a. YouTube. Dergelijke partijen plaatsen cookies (third party cookies). Als u deze cookies niet wilt kunt u dat hier aangeven. Lees meer over het cookiebeleid.

prof. dr. N.M. Verhoeven-Duif Full Professor

  • Section Metabolic Diagnostics

N.M. Verhoeven

Contact

Research Programs

Research Output (78)

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.

PLPHP deficiency:clinical, genetic, biochemical, and mechanistic insights

Johnstone Devon L, Al-Shekaili Hilal H, Tarailo-Graovac Maja, Wolf Nicole I, Ivy Autumn S, Demarest Scott, Roussel Yann, Ciapaite Jolita, van Roermund Carlo W T, Kernohan Kristin D, Kosuta Ceres, Ban Kevin, Ito Yoko, McBride Skye, Al-Thihli Khalid, Abdelrahim Rana A, Koul Roshan, Al Futaisi Amna, Haaxma Charlotte A, Olson Heather, Sigurdardottir Laufey Yr, Arnold Georgianne L, Gerkes Erica H, Boon M, Heiner-Fokkema M Rebecca, Noble Sandra, Bosma Marjolein, Jans Judith, Koolen David A, Kamsteeg Erik-Jan, Drögemöller Britt, Ross Colin J, Majewski Jacek, Cho Megan T, Begtrup Amber, Wasserman Wyeth W, Bui Tuan, Brimble Elise, Violante Sara, Houten Sander M, Wevers Ron A, van Faassen Martijn, Kema Ido P, Lepage Nathalie, Lines Matthew A, Dyment David A, Wanders Ronald J A, Verhoeven-Duif Nanda, Ekker Marc, Boycott Kym M, 1 mrt 2019, In: Brain : a journal of neurology. 142 , p. 542-559 18 p.

Focal epilepsy with fear-related behavior as primary presentation in Boerboel dogs

Stassen Quirine E M, Grinwis Guy C M, van Rhijn Nieke C, Beukers Martjin, Verhoeven-Duif Nanda M, Leegwater Peter A J mrt 2019, In: Journal of Veterinary Internal Medicine. 33 , p. 694-700 7 p.

All Research Output (78)
To top