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.

dr. J.J.M. (Judith) Jans Associate Professor

  • Section Metabolic Diagnostics

J.J.M. Jans

Contact

Research Programs

Biography

Judith Jans is a laboratory specialist in Clinical Genetics, specializing in diagnostics of inborn errors of metabolism. She is a staff member at the section Metabolic Diagnostics at the Department of Genetics at the Wilhelmina Children’s Hospital. Her research interests include the elucidation of novel genetic metabolic diseases, with a specific interest in developing untargeted metabolomics to aid in this process. Recent work has focused on the introduction of untargeted metabolomics in diagnostics and fully integrating genomics and metabolomics data to improve patient care.

Research Output (52)

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.

Glutaminase deficiency caused by short tandem repeat expansion in GLS

Rumping Lynne, Jans Judith J., Van Hasselt Peter M. 19 sep 2019, In: New England Journal of Medicine. 381 , p. 1185-1185 1 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.

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.

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Pekkinen Minna, Terhal Paulien A, Botto Lorenzo D, Henning Petra, Mäkitie Riikka E, Roschger Paul, Jain Amrita, Kol Matthijs, Kjellberg Matti A, Paschalis Eleftherios P, van Gassen Koen, Murray Mary, Bayrak-Toydemir Pinar, Magnusson Maria K, Jans Judith, Kausar Mehran, Carey John C, Somerharju Pentti, Lerner Ulf H, Vesa Olkkonen M, Klaushofer Klaus, Holthuis Joost Cm, Mäkitie Outi 19 feb 2019, In: JCI Insight. 4 21 p.

Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Haijes Hanneke A., Willemsen Marcel, van der Ham Maria, Gerrits Johan, Pras-Raves Mia L., Prinsen Hubertus C.M.T., van Hasselt Peter M., de Sain-Van der Velden Monique G.M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 jan 2019, In: Metabolites. 9

All Research Output (52)
To top