Research output per year
Research output per year
Research output
- 1 - 50 out of 182 results
Search results
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2025
Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism
German, H. M., Ciapaite, J., Verhoeven-Duif, N. M. & Jans, J. J. M., Mar 2025, In: Journal of Biological Chemistry. 301, 3, 13 p., 108307.Research output: Contribution to journal › Article › Academic › peer-review
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Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure
Feio-Azevedo, R., Boesch, M., Radenkovic, S., Van Melkebeke, L., Smets, L., Wallays, M., Boeckx, B., Philips, G., Prata De Oliveira, J., Ghorbani, M., Laleman, W., Meersseman, P., Wilmer, A., Cassiman, D., Van Malenstein, H., Triantafyllou, E., Sánchez, C., Aguilar, F., Nevens, F. & Verbeek, J. & 8 others, , 1 Feb 2025, In: Hepatology. 81, 2, p. 509-522Research output: Contribution to journal › Article › Academic › peer-review
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Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
Kok, G., Schene, I. F., Ilcken, E. F., Alcaraz, P. S., Mendes, M. I., Smith, D. E. C., Salomons, G., Shehata, S., Jans, J. J. M., Maroofian, R., Hoek, T. A., van Es, R. M., Rehmann, H., Nieuwenhuis, E. E. S., Vos, H. R. & Fuchs, S. A., 13 Jan 2025, In: Nucleic acids research. 53, 1, gkae1184.Research output: Contribution to journal › Article › Academic › peer-review
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Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS
van der Ham, M., Hoytema van Konijnenburg, E., van Rossum, W., Gerrits, J., van Hasselt, P., Prinsen, H., Jans, J., Schlotawa, L., Laugwitz, L. & de Sain-van der Velden, M., 8 May 2025, In: Analytica Chimica Acta. 1350, 343824.Research output: Contribution to journal › Article › Academic › peer-review
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Pyruvate Kinase Function Correlates With Red Blood Cell Properties and Clinical Manifestations in Sickle Cell Disease
Traets, M. J. M., Bos, J. F., van der Veen, S., van Pelt, L., van Dijk, M. J., van Oirschot, B. A., de Wilde, J. R. A., Jans, J. J., van Solinge, W. W., Schols, S. E. M., Lauw, M. N., Cnossen, M. H., Nur, E., Biemond, B. J., Rijneveld, A. W., van Beers, E. J., van Wijk, R. & Rab, M. A. E., May 2025, In: American journal of hematology. 100, 5, p. 785-796Research output: Contribution to journal › Article › Academic › peer-review
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Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models – Of mice and men
Traets, M. J. M., Ruiter, T. J. J., Levine, C., Rijneveld, A. W., Jans, J. J., Alt, C., Rab, M. A. E., Chen, Y. W., van Wijk, R. & van Oirschot, B. A., Mar 2025, In: Blood Cells, Molecules, and Diseases. 111, 102909.Research output: Contribution to journal › Article › Academic › peer-review
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Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples
Saarela, D., Lis, P., Gomes, S., Nirujogi, R. S., Dong, W., Rawat, E. S., Glendinning, S., Zeneviciute, K., Bagnoli, E., Fasimoye, R., Lin, C., Nyame, K., Boros, F. A., Zunke, F., Lamoliatte, F., Elshani, S., Jaconelli, M., Jans, J. J., Huisman, M. A. & Posern, C. & 6 others, , 17 Feb 2025, In: Journal of Clinical Investigation. 135, 4, e183592.Research output: Contribution to journal › Article › Academic › peer-review
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Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma
Matser, Y. A. H., Samim, A., Fiocco, M., van de Mheen, M., van der Ham, M., de Sain-van der Velden, M. G. M., Verhoeven-Duif, N. M., van Grotel, M., Kraal, K. C. J. M., Dierselhuis, M. P., van Eijkelenburg, N. K. A., Langenberg, K. P. S., van Noesel, M. M., van Kuilenburg, A. B. P. & Tytgat, G. A. M., Jan 2025, In: JCO Precision Oncology. 9, e2400491.Research output: Contribution to journal › Article › Academic › peer-review
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2024
A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease
van Dijk, M. J., Traets, M. J. M., van Oirschot, B. A., Ruiter, T. J. J., de Wilde, J. R. A., Bos, J., van Solinge, W. W., Koziel, M. J., Jans, J. J. M., Wani, R., van Beers, E. J., van Wijk, R. & Rab, M. A. E., Feb 2024, In: EJHaem. 5, 1, p. 21-32 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes
Meijer, N. W. F., Zwakenberg, S., Gerrits, J., Westland, D., Ardisasmita, A. I., Fuchs, S. A., Verhoeven-Duif, N. M., Jans, J. J. M. & Zwartkruis, F. J. T., 25 Apr 2024, In: Metabolites. 14, 5, 13 p., 246.Research output: Contribution to journal › Article › Academic › peer-review
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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Kiewiet, G., Westra, D., de Boer, E. N., van Berkel, E., Hofste, T. G. J., van Zweeden, M., Derks, R. C., Leijsten, N. F. A., Ruiterkamp-Versteeg, M. H. A., Charbon, B., Johansson, L., Bos-Kruizinga, J., Veenstra, I. J., de Sain-van der Velden, M. G. M., Voorhoeve, E., Heiner-Fokkema, M. R., van Spronsen, F., Sikkema-Raddatz, B. & Nelen, M., 7 Mar 2024, In: International Journal of Neonatal Screening. 10, 1, 17 p., 20.Research output: Contribution to journal › Article › Academic › peer-review
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Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease
van Dijk, M. J., Ruiter, T. J. J., van der Veen, S., Rab, M. A. E., van Oirschot, B. A., Bos, J., Derichs, C., Rijneveld, A. W., Cnossen, M. H., Nur, E., Biemond, B. J., Bartels, M., Schutgens, R. E. G., van Solinge, W. W., Jans, J. J. M., van Beers, E. J. & van Wijk, R., Jun 2024, In: Hemasphere. 8, 6, e109.Research output: Contribution to journal › Article › Academic › peer-review
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Methotrexate accumulation in target intestinal mucosa and white blood cells differs from non-target red blood cells of patients with Crohn's disease
van de Meeberg, M. M., Sundaresan, J., Lin, M., Jansen, G., Struys, E. A., Fidder, H. H., Oldenburg, B., Mares, W. G. N., Mahmmod, N., van Asseldonk, D. P., Rietdijk, S. T., Nissen, L. H. C., de Boer, N. K. H., Bouma, G., Ćalasan, M. B., de Jonge, R. & On behalf on the Dutch Initiative on Crohn and Colitis (ICC), Sept 2024, In: Basic & Clinical Pharmacology & Toxicology. 135, 3, p. 308-320 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes
Zwakenberg, S., Westland, D., van Es, R. M., Rehmann, H., Anink, J., Ciapaite, J., Bosma, M., Stelloo, E., Liv, N., Sobrevals Alcaraz, P., Verhoeven-Duif, N. M., Jans, J. J. M., Vos, H. R., Aronica, E. & Zwartkruis, F. J. T., 21 Nov 2024, In: Molecular Cell. 84, 22, p. 4368-4384.e6Research output: Contribution to journal › Article › Academic › peer-review
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Veldman, A., Sikkema-Raddatz, B., Derks, T. G. J., van Karnebeek, C. D. M., Kiewiet, M. B. G., Mulder, M. F., Nelen, M. R., Rubio-Gozalbo, M. E., Sinke, R. J., de Sain-van der Velden, M. G., Visser, G., de Vries, M. C., Westra, D., Williams, M., Wevers, R. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., 28 Dec 2024, In: International Journal of Neonatal Screening. 11, 1, 26 p., 1.Research output: Contribution to journal › Article › Academic › peer-review
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Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
Ferreira, E. A., Hofstede, F. C., Haijes-Siepel, H. A., Lichtenbelt, K. D., Pistorius, L., de Sain-van der Velden, M. G. M., Nikkels, P. G. J., Lequin, M. H., de Vries, L. S., van der Crabben, S. N. & van Hasselt, P. M., Jan 2024, In: Genetics in Medicine Open. 2, 101853.Research output: Contribution to journal › Article › Academic › peer-review
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UPLC-Orbitrap-HRMS application for analysis of plasma sterols
van der Ham, M., Gerrits, J., Prinsen, B., van Hasselt, P., Fuchs, S., Jans, J., Willems, A. & de Sain-van der Velden, M., 1 Apr 2024, In: Analytica Chimica Acta. 1296, 10 p., 342347.Research output: Contribution to journal › Article › Academic › peer-review
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2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B. & Visser, G. & 4 others, , 11 Oct 2023, In: International Journal of Neonatal Screening. 9, 4, 56.Research output: Contribution to journal › Article › Academic › peer-review
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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
Willems, A. P., van der Ham, M., Schiebergen-Bronkhorst, B. G. M., van Aalderen, M., de Barse, M. M. J., De Gruyter, F. E., van Hoek, I. N., Pras-Raves, M. L., de Sain-van der Velden, M. G. M., Prinsen, H. C. M. T., Verhoeven-Duif, N. M. & Jans, J. J. M., 2 Nov 2023, In: Frontiers in Molecular Biosciences. 10, 9 p., 1283083.Research output: Contribution to journal › Article › Academic › peer-review
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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., May 2023, In: JIMD Reports. 64, 3, p. 217-222 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
Crefcoeur, L. L., Heiner-Fokkema, M. R., Maase, R. E., Visser, G. & de Sain-van der Velden, M. G. M., Jan 2023, In: JIMD Reports. 64, 1, p. 57-64 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant
Catli, G., Gao, W., Foley, C., Özyilmaz, B., Edeer, N., Diniz, G., Losekoot, M., van Doorn, J., Dauber, A., Dundar, B. N., Wit, J. M. & Hwa, V., 1 Jan 2023, In: Molecular and Cellular Endocrinology. 559, 111799.Research output: Contribution to journal › Article › Academic › peer-review
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Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers
Jansen, M., Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., Dec 2023, In: Journal of Cardiovascular Translational Research. 16, 6, p. 1267-1275 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain
Willemen, H., Silva Santos Ribeiro, P., Broeks, M., Meijer, N., Versteeg, S., Tiggeler, A., de Boer, T., Małecki, J., Falnes, P. Ø., Jans, J. & Eijkelkamp, N., 21 Nov 2023, In: Cell reports. Medicine. 4, 11, 16 p., 101265.Research output: Contribution to journal › Article › Academic › peer-review
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Maintenance of cellular vitamin B 6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein
Ciapaite, J., van Roermund, C. W. T., Bosma, M., Gerrits, J., Houten, S. M., IJlst, L., Waterham, H. R., van Karnebeek, C. D. M., Wanders, R. J. A., Zwartkruis, F. J. T., Jans, J. J. & Verhoeven-Duif, N. M., Sept 2023, In: The Journal of biological chemistry. 299, 9, 15 p., 105047.Research output: Contribution to journal › Article › Academic › peer-review
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Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B. G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J. & Heiner-Fokkema, M. R., Nov 2023, In: Journal of Inherited Metabolic Disease. 46, 6, p. 1104-1113 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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Metabolic Alterations in NADSYN1-Deficient Cells
Meijer, N. W. F., Gerrits, J., Zwakenberg, S., Zwartkruis, F. J. T., Verhoeven-Duif, N. M. & Jans, J. J. M., 12 Dec 2023, In: Metabolites. 13, 12, 12 p., 1196.Research output: Contribution to journal › Article › Academic › peer-review
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Multi-country metabolic signature discovery for chicken health classification
Wolthuis, J. C., Magnúsdóttir, S., Stigter, E., Tang, Y. F., Jans, J., Gilbert, M., van der Hee, B., Langhout, P., Gerrits, W., Kies, A., de Ridder, J. & van Mil, S., 2 Feb 2023, In: Metabolomics. 19, 2, 9.Research output: Contribution to journal › Article › Academic › peer-review
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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 27 Nov 2023, In: Journal of Medical Genetics. 60, 12, p. 1177-1185 9 p., jmg-2023-109206.Research output: Contribution to journal › Article › Academic › peer-review
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One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study
van Dijk, M. J., Rab, M. A. E., van Oirschot, B. A., Bos, J., Derichs, C., Rijneveld, A. W., Cnossen, M. H., Nur, E., Biemond, B. J., Bartels, M., Jans, J. J. M., van Solinge, W. W., Schutgens, R. E. G., van Wijk, R. & van Beers, E. J., 26 Dec 2023, In: Blood Advances. 7, 24, p. 7539-7550 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Optimising urinary catecholamine metabolite diagnostics for neuroblastoma
SIOPEN Catecholamine Working Group, Jun 2023, In: Pediatric Blood & Cancer. 70, 6, e30289.Research output: Contribution to journal › Article › Academic › peer-review
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Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome
Edridge, A. W. D., Abd-Elfarag, G., Deijs, M., Broeks, M. H., Cristella, C., Sie, B., Vaz, F. M., Jans, J. J. M., Calis, J., Verhoef, H., Demir, A., Poppert, S., Nickel, B., van Dam, A., Sebit, B., Titulaer, M. J., Verweij, J. J., de Jong, M. D., van Gool, T. & Faragher, B. & 4 others, , 2023, In: Brain communications. 5, 5, p. 1-12 fcad223.Research output: Contribution to journal › Article › Academic › peer-review
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
Achleitner, M. T., Jans, J. J. M., Ebner, L., Spenger, J., Konstantopoulou, V., Feichtinger, R. G., Brugger, K., Mayr, D., Wevers, R. A., Thiel, C., Wortmann, S. B. & Mayr, J. A., 10 Nov 2023, In: Metabolites. 13, 11, 14 p., 1141.Research output: Contribution to journal › Article › Academic › peer-review
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The malate-aspartate shuttle is important for de novo serine biosynthesis
Broeks, M. H., Meijer, N. W. F., Westland, D., Bosma, M., Gerrits, J., German, H. M., Ciapaite, J., van Karnebeek, C. D. M., Wanders, R. J. A., Zwartkruis, F. J. T., Verhoeven-Duif, N. M. & Jans, J. J. M., 26 Sept 2023, In: Cell Reports. 42, 9, p. 1-18 113043.Research output: Contribution to journal › Article › Academic › peer-review
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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
Jansen, M., Schuldt, M., van Driel, B. O., Schmidt, A. F., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Deprez, R. H. L., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., 17 Feb 2023, In: International journal of molecular sciences. 24, 4, 4031.Research output: Contribution to journal › Article › Academic › peer-review
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Viral, bacterial, metabolic, and autoimmune causes of severe acute encephalopathy in sub-Saharan Africa: a multicenter cohort study
Edridge, A., Namazi, R., Tebulo, A., Mfizi, A., Deijs, M., Koekkoek, S., de Wever, B., van der Ende, A., Umiwana, J., de Jong, M. D., Jans, J., Verhoeven-Duif, N., Titulaer, M., van Karnebeek, C., Seydel, K., Taylor, T., Asiimwe-Kateera, B., van der Hoek, L., Kabayiza, J.-C. & Mallewa, M. & 3 others, , Jul 2023, In: The Journal of Pediatrics. 258, 17 p., 113360.Research output: Contribution to journal › Article › Academic › peer-review
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Western diet triggers cardiac dysfunction in heterozygous Mybpc3-targeted knock-in mice: A two-hit model of hypertrophic cardiomyopathy
Nollet, E. E., Algül, S., Goebel, M., Schlossarek, S., van der Wel, N. N., Jans, J. J. M., van de Wiel, M. A., Knol, J. C., Pham, T. V., Piersma, S. R., de Goeij-de Haas, R., Hermans, J., van Klinken, J. B., van Weeghel, M., Houtkooper, R. H., Carrier, L., Jimenez, C. R., Kuster, D. W. D. & van der Velden, J., Dec 2023, In: Journal of Molecular and Cellular Cardiology Plus. 6, 100050.Research output: Contribution to journal › Article › Academic › peer-review
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2022
Clinical relevance of testing for metabolic vitamin B12 deficiency in patients with polyneuropathy
Warendorf, J. K., van Doormaal, P. T. C., Vrancken, A. F. J. E., Verhoeven-Duif, N. M., van Eijk, R. P. A., van den Berg, L. H. & Notermans, N. C., Dec 2022, In: Nutritional neuroscience. 25, 12, p. 2536-2546 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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Evaluation of PEG-L-asparaginase in asparagine suppression and anti-drug antibody development in healthy Beagle dogs: A multi-phase preclinical study
Feenstra, L. R., Gehring, R., van Geijswijk, I. M., König, T., Prinsen, H. C. M. T., Vandemeulebroecke, K., Lammens, T., Krupa, A. & Teske, E., Aug 2022, In: The Veterinary Journal. 286, 105854.Research output: Contribution to journal › Article › Academic › peer-review
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Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study
Bayat, A., Aledo-Serrano, A., Gil-Nagel, A., Korff, C. M., Thomas, A., Boßelmann, C., Weber, Y., Gardella, E., Lund, A. M., de Sain-van der Velden, M. G. M. & Møller, R. S., Jun 2022, In: Developmental Medicine and Child Neurology. 64, 6, p. 789-798 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Lehmann, V., Schene, I. F., Ardisasmita, A. I., Liv, N., Veenendaal, T., Klumperman, J., van der Doef, H. P. J., Verkade, H. J., Verstegen, M. M. A., van der Laan, L. J. W., Jans, J. J. M., Verhoeven-Duif, N. M., van Hasselt, P. M., Nieuwenhuis, E. E. S., Spee, B. & Fuchs, S. A., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 353-365 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
Korteling, D., Boks, M. P., Fiksinski, A. M., van Hoek, I. N., Vorstman, J. A. S., Verhoeven-Duif, N. M., Jans, J. J. M. & Zinkstok, J. R., 9 Mar 2022, In: Translational Psychiatry. 12, 1, p. 1-7 97.Research output: Contribution to journal › Article › Academic › peer-review
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2021
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Veldman, B. C. F., Kuper, W. F. E., Lilien, M., Schuurs-Hoeijmakers, J. H. M., Marcelis, C., Phan, M., Hettinga, Y., Talsma, H. E., van Hasselt, P. M. & Haijes, H. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2204-2210 7 p.Research output: Contribution to journal › Article › Academic › peer-review
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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Ghosh, S. G., Lee, S., Fabunan, R., Chai, G., Zaki, M. S., Abdel-Salam, G., Sultan, T., Ben-Omran, T., Alvi, J. R., McEvoy-Venneri, J., Stanley, V., Patel, A., Ross, D., Ding, J., Jain, M., Pan, D., Lübbert, P., Kammerer, B., Wiedemann, N. & Verhoeven-Duif, N. M. & 10 others, , Mar 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 3, p. 524-533 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status
Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., Jun 2021, In: Netherlands Heart Journal. 29, 6, p. 318-329 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Coughlin, C. R., Tseng, L. A., Abdenur, J. E., Ashmore, C., Boemer, F., Bok, L. A., Boyer, M., Buhas, D., Clayton, P. T., Das, A., Dekker, H., Evangeliou, A., Feillet, F., Footitt, E. J., Gospe, S. M., Hartmann, H., Kara, M., Kristensen, E., Lee, J. & Lilje, R. & 17 others, , Jan 2021, In: Journal of Inherited Metabolic Disease. 44, 1, p. 178-192 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy
Schuldt, M., van Driel, B., Algül, S., Parbhudayal, R. Y., Barge-Schaapveld, D. Q. C. M., Güçlü, A., Jansen, M., Michels, M., Baas, A. F., van de Wiel, M. A., Nieuwdorp, M., Levin, E., Germans, T., Jans, J. J. M. & van der Velden, J., 29 Oct 2021, In: Cells. 10, 11, p. 1-16 2950.Research output: Contribution to journal › Article › Academic › peer-review
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Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia
van Dooijeweert, B., Broeks, M. H., van Beers, E. J., Verhoeven-Duif, N. M., van Solinge, W. W., Nieuwenhuis, E. E. S., Jans, J. J., van Wijk, R. & Bartels, M., Jun 2021, In: British Journal of Haematology. 193, 6, p. 1185-1193 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
Molema, F., Haijes, H. A., 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., Fuchs, S., Langendonk, J. G., Rizopoulos, D., van Hasselt, P. M. & Williams, M., May 2021, In: Clinical Nutrition. 40, 5, p. 3622-3630 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses
van den Broek, B. T. A., Lindemans, C. A., Boelens, J. J., Delemarre, E. M., Drylewicz, J., Verhoeven-Duif, N., van Hasselt, P. M. & Nierkens, S., 24 Aug 2021, In: Blood Advances. 5, 16, p. 3092-3101 10 p.Research output: Contribution to journal › Article › Academic › peer-review