Inborn disorders of the malate aspartate shuttle
Broeks, Melissa H., Karnebeek, Clara D. M., Wanders, Ronald J. A., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
Get full text
Journal Article
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.
Published in Human genetics (01.12.2019)
Published in Human genetics (01.12.2019)
Get full text
Journal Article
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
Published in Haematologica (Roma) (01.10.2021)
Published in Haematologica (Roma) (01.10.2021)
Get full text
Journal Article
The malate-aspartate shuttle is important for de novo serine biosynthesis
Broeks, Melissa H., Meijer, Nils W.F., Westland, Denise, Bosma, Marjolein, Gerrits, Johan, German, Hannah M., Ciapaite, Jolita, van Karnebeek, Clara D.M., Wanders, Ronald J.A., Zwartkruis, Fried J.T., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Published in Cell reports (Cambridge) (26.09.2023)
Published in Cell reports (Cambridge) (26.09.2023)
Get full text
Journal Article
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
Dooijeweert, Birgit, Broeks, Melissa H., Beers, Eduard J., Verhoeven‐Duif, Nanda M., Solinge, Wouter W., Nieuwenhuis, Edward E. S., Jans, Judith J., Wijk, Richard, Bartels, Marije
Published in British journal of haematology (01.06.2021)
Published in British journal of haematology (01.06.2021)
Get full text
Journal Article
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
Published in International journal of molecular sciences (01.02.2020)
Published in International journal of molecular sciences (01.02.2020)
Get full text
Journal Article
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome
Edridge, Arthur W D, Abd-Elfarag, Gasim, Deijs, Martin, Broeks, Melissa H, Cristella, Cosimo, Sie, Brandon, Vaz, Frédéric M, Jans, Judith J M, Calis, Job, Verhoef, Hans, Demir, Ayse, Poppert, Sven, Nickel, Beatrice, van Dam, Alje, Sebit, Boy, Titulaer, Maarten J, Verweij, Jaco J, de Jong, Menno D, van Gool, Tom, Faragher, Brian, Verhoeven-Duif, Nanda M, Elledge, Stephen J, van der Hoek, Lia, Boele van Hensbroek, Michael
Published in Brain communications (2023)
Published in Brain communications (2023)
Get full text
Journal Article
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity
Dooijeweert, Birgit, Broeks, Melissa H., Verhoeven‐Duif, Nanda M., Solinge, Wouter W., Beers, Eduard J., Rab, Minke A. E., Nieuwenhuis, Edward E. S., Jans, Judith J. M., Bartels, Marije, Wijk, Richard
Published in HemaSphere (01.07.2021)
Published in HemaSphere (01.07.2021)
Get full text
Journal Article
Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias
van Dooijeweert, Birgit, Broeks, Melissa, Jans, Judith, van Beers, Eduard J., Verhoeven, Nanda, van Wijk, Richard, Bartels, Marije
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
Get full text
Journal Article
Untargeted Metabolomic Fingerprinting As a Potential Tool in the Diagnostic Evaluation of Diamond Blackfan Anemia
Van Dooijeweert, Birgit, Broeks, Melissa H., Grootendorst, Simon T., Verhoeven, Nanda M., van Solinge, Wouter W., Nieuwenhuis, Edward E.S., Jans, Judith J., Wijk, Richard van, Bartels, Marije
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
Get full text
Journal Article
Metabolomics in diagnostics of inborn metabolic disorders
Jans, Judith JM, Broeks, Melissa H., Verhoeven-Duif, Nanda M.
Published in Current opinion in systems biology (01.03.2022)
Published in Current opinion in systems biology (01.03.2022)
Get full text
Journal Article
Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain
Willemen, Hanneke L D M, Santos Ribeiro, Patrícia Silva, Broeks, Melissa, Meijer, Nils, Versteeg, Sabine, Tiggeler, Annefien, de Boer, Teun P, Małecki, Jędrzej M, Falnes, Pål Ø, Jans, Judith, Eijkelkamp, Niels
Published in Cell reports. Medicine (21.11.2023)
Published in Cell reports. Medicine (21.11.2023)
Get full text
Journal Article