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 (40)

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.

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.

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.

Genetic defect of the sodium-dependent multivitamin transporter:A treatable disease, mimicking biotinidase deficiency

Schwantje Marit, de Sain-van der Velden Monique, Jans Judith, van Gassen Koen, Dorrepaal Charlotte, Koop Klaas, Visser Gepke jul 2019, In: JIMD Reports. 48 , p. 11-14 4 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.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Rumping Lynne, Büttner Benjamin, Maier Oliver, Rehmann Holger, Lequin Maarten, Schlump Jan Ulrich, Schmitt Bernhard, Schiebergen-Bronkhorst Birgit, Prinsen Hubertus C.M.T., Losa Michele, Fingerhut Ralph, Lemke Johannes R., Zwartkruis Fried J.T., Houwen Roderick H.J., Jans Judith J.M., Verhoeven-Duif Nanda M., Van Hasselt Peter M., Jamra Rami 21 dec 2018, In: JAMA Neurology. 76 , p. 342-350 9 p.

All Research Output (40)
To top