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

Associate Professor
dr. J.J.M. (Judith) Jans
  • Section Metabolic Diagnostics

Research Programs

Child Health

Biography

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 (76)

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Van Dooijeweert Birgit, Broeks Melissa H, Verhoeven-Duif Nanda M, Van Beers Eduard J, Nieuwenhuis Edward E S, Van Solinge Wouter W, Bartels Marije, Jans Judith J, Van Wijk Richard 10 sep 2020, In: Haematologica. Online ahead of print

Cross-omics:Integrating genomics with metabolomics in clinical diagnostics

Kerkhofs Marten H.P.M., Haijes Hanneke A., Marcel Willemsen A., Van Gassen Koen L.I., Van Der Ham Maria, Gerrits Johan, De Sain-Van Der Velden Monique G.M., Prinsen Hubertus C.M.T., Van Deutekom Hanneke W.M., Van Hasselt Peter M., Verhoeven-Duif Nanda M., Jans Judith J.M. 18 mei 2020, In: Metabolites. 10 15 p.

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias:a deep metabolic phenotyping approach

Haijes H A, Jans J J M, van der Ham M, van Hasselt P M, Verhoeven-Duif N M 6 mrt 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-13

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping Lynne, Pras-Raves Mia L, Gerrits Johan, Tang Yuen Fung, Willemsen Marcel A, Houwen Roderick H J, van Haaften Gijs, van Hasselt Peter M, Verhoeven-Duif Nanda M, Jans Judith J M 1 mrt 2020, In: Biochimica et biophysica acta-General subjects. 1864 , p. 1-7

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.

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Haijes H. A., Prinsen Hubertus C.M.T., de Sain-van der Velden Monique G.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Jans Judith J.M. mrt 2020, In: Molecular Genetics and Metabolism Reports. 22 , p. 1-6

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.

Misdiagnosis of CTX due to propofol:the interference of total intravenous propofol anaesthesia with bile acid profiling

Claesen Joep LA, Koomen Erik, Schene Imre F, Jans Judith Jm, Mast Natalia, Pikuleva Irina A, van der Ham Maria, de Sain-van der Velden Monique Gm, Fuchs Sabine A 28 jan 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 843-851 9 p.

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia:what to aim, expect and evaluate from newborn screening?

Haijes H A, Molema F, Langeveld M, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Langendonk J G, Williams M, van Hasselt P M 11 dec 2019, In: Journal of Inherited Metabolic Disease. 43 , p. 424-437 14 p.

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

Haijes Hanneke A, Willemse Eline A J, Gerrits Johan, van der Flier Wiesje M, Teunissen Charlotte E, Verhoeven-Duif Nanda M, Jans Judith J M 18 okt 2019, In: Metabolites. 9 12 p.

All research output