Validation of an LC-MS/MS method for urinary homovanillic and vanillylmandelic ACIDS and application to the diagnosis of neuroblastoma

Authors: Rossi, Lucilla ^{a, b}, Matser, Yvette A.H. ^{c, d}, Barco, Sebastiano ^{a, ⁎}, Cafaro, Alessia ^a, Pigliasco, Federica ^a, Biondi, Margherita ^a, Mancin, Fabrizio ^b, van der Ham, Maria ^e, de Sain-van der Velden, Monique G.M. ^e, Ash, Shifra ^f, Popovic, Maja Beck ^g, van Kuilenburg, André B.P. ^{d, h}, Conte, Massimo ⁱ, Garaventa, Alberto ⁱ, Tytgat, Godelieve A.M. ^c, Cangemi, Giuliana ^{a, 1}

Source: In Journal of Mass Spectrometry and Advances in the Clinical Lab April 2025 36:73-81

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Authors: van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wasserman, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B.P.

Source: In Genetics in Medicine June 2024 26(6)

Anti-retroviral treatment with zidovudine alters pyrimidine metabolism, reduces translation, and extends healthy longevity via ATF-4

Authors: McIntyre, Rebecca L., Molenaars, Marte, Schomakers, Bauke V., Gao, Arwen W., Kamble, Rashmi, Jongejan, Aldo, van Weeghel, Michel, van Kuilenburg, André B.P., Possemato, Richard, Houtkooper, Riekelt H., Janssens, Georges E.

Source: In Cell Reports 31 January 2023 42(1)

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain

Authors: Righetti, Sarah, Allcock, Richard J.N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B.P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.

Source: In Molecular Genetics and Metabolism September-October 2022 137(1-2):62-67

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity

Authors: Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A., Gummesson, Anders, Reims, Annika, Cayuela, Jorge A., Kuklina, Natalia, Benoist, Jean-François, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F., Bierau, Jörgen, Kaindl, Angela M., van Kuilenburg, André B.P.

Source: In Molecular Genetics and Metabolism July 2022 136(3):177-185

Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma.

Authors: Matser, Yvette A.H., Samim, Atia, Fiocco, Marta, van de Mheen, Marieke, van der Ham, Maria, de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Grotel, Martine, Kraal, Kathelijne C.J.M., Dierselhuis, Miranda P., van Eijkelenburg, Natasha K.A., Langenberg, Karin P.S., van Noesel, Max M., van Kuilenburg, André B.P., Tytgat, Godelieve A.M.

Source: JCO Precision Oncology; 2/21/2025, Vol. 9, p1-13, 13p

Subject Terms: CATECHOLAMINES, NEUROBLASTOMA, CRITICALLY ill, SURVIVAL rate, DISEASE relapse, DISEASE remission, BIOMARKERS, PROGNOSIS

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

Authors: van Kuilenburg, André B.P.¹ (AUTHOR) a.b.vankuilenburg@amsterdamumc.nl, Pleunis-van Empel, Marjolein C.H.² (AUTHOR), Brouwer, Rick B.³ (AUTHOR), Sijben, Angelique E.J.⁴ (AUTHOR), Knapen, Daan G.⁵ (AUTHOR), Oude Munnink, Thijs H.⁶ (AUTHOR), van Zanden, Jelmer J.⁷ (AUTHOR), Janssens-Puister, Jenny⁸ (AUTHOR), Dobritzsch, Doreen⁹ (AUTHOR), Meinsma, Rutger¹ (AUTHOR), Meijer-Jansen, Judith¹ (AUTHOR), van Dooren, Silvy J.M.¹ (AUTHOR), Vijzelaar, Raymon¹⁰ (AUTHOR), Pop, Ana¹ (AUTHOR), Salomons, Gajja S.¹ (AUTHOR), Maring, Jan Gerard¹¹ (AUTHOR), Niezen-Koning, Klary E.⁸ (AUTHOR)

Source: JCO Precision Oncology. 12/1/2024, Vol. 8, p1-7. 7p.

Subject Terms: *EPIDERMAL growth factor receptors, *FLAVIN adenine dinucleotide, *NICOTINAMIDE adenine dinucleotide phosphate, *DIHYDROPYRIMIDINE dehydrogenase, *FLAVIN mononucleotide, *TESTICULAR cancer, *SEMINOMA

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

Authors: Eskes, Eline C.B., Sjouke, Barbara, Vaz, Frédéric M., Goorden, Susan M.I., van Kuilenburg, André B.P., Aerts, Johannes M.F.G., Hollak, Carla E.M.

Source: In Molecular Genetics and Metabolism May 2020 130(1):16-26

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Authors: Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, van Cruchten, Arno G., Kulik, Wim, Viel-Oliva, Albert, Bidon-Chanal, Axel, Ross, Colin J., Wassermann, Wyeth W., van Karnebeek, Clara D.M., Pastor-Anglada, Marçal, van Kuilenburg, André B.P.

Source: In BBA - Molecular Basis of Disease 1 June 2019 1865(6):1182-1191

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation

Authors: Aldosari, Mohammed H., de Vries, Robert P., Rodriguez, Lucia R., Hesen, Nienke A., Beztsinna, Nataliia, van Kuilenburg, André B.P., Hollak, Carla E.M., Schellekens, Huub, Mastrobattista, Enrico

Source: In European Journal of Pharmaceutics and Biopharmaceutics April 2019 137:185-195

A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy

Authors: Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert-Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., van Werkhoven, Erik, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk-Jan, Schellens, Jan H.M.

Source: In European Journal of Cancer January 2019 107:60-67

The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters

Authors: van Golen, Rowan F., Olthof, Pim B., de Haan, Lianne R., Coelen, Robert J., Pechlivanis, Alexandros, de Keijzer, Mark J., Weijer, Ruud, de Waart, Dirk R., van Kuilenburg, André B.P., Roelofsen, Jeroen, Gilijamse, Pim W., Maas, Martinus A., Lewis, Matthew R., Nicholson, Jeremy K., Verheij, Joanne, Heger, Michal

Source: In BBA - Molecular Basis of Disease March 2018 1864(3):942-951

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity

Authors: Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Zhang, Chunhua, Wang, Xu, Watanabe, Yoriko, Tashiro, Kyoko, Meinsma, Rutger, Roelofsen, Jeroen, Zoetekouw, Lida, van Kuilenburg, André B.P.

Source: In Molecular Genetics and Metabolism December 2017 122(4):216-222

Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible

Authors: Reiniers, Megan J., Olthof, Pim. B., van Golen, Rowan F., Heger, Michal, van Beek, Adriaan A., Meijer, Ben, Leen, René, van Kuilenburg, André B.P., Mearadji, Banafsche, Bennink, Roelof J., Verheij, Joanne, van Gulik, Thomas M.

Source: In Surgery July 2017 162(1):48-58

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease

Authors: Arends, Maarten, Wijburg, Frits A., Wanner, Christoph, Vaz, Frédéric M., van Kuilenburg, André B.P., Hughes, Derralynn A., Biegstraaten, Marieke, Mehta, Atul, Hollak, Carla E.M., Langeveld, Mirjam

Source: In Molecular Genetics and Metabolism June 2017 121(2):157-161

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

Authors: van Kuilenburg, André B.P., Meijer, Judith, Maurer, Dirk, Dobritzsch, Doreen, Meinsma, Rutger, Los, Maartje, Knegt, Lia C., Zoetekouw, Lida, Jansen, Rob L.H., Dezentjé, Vincent, van Huis-Tanja, Lieke H., van Kampen, Roel J.W., Hertz, Jens Michael, Hennekam, Raoul C.M.

Source: In BBA - Molecular Basis of Disease March 2017 1863(3):721-730

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

Authors: Verly, Iedan R.N., van Kuilenburg, André B.P., Abeling, Nico G.G.M., Goorden, Susan M.I., Fiocco, Marta, Vaz, Frédéric M., van Noesel, Max M., Zwaan, C. Michel, Kaspers, GertJan L., Merks, Johannes H.M., Caron, Huib N., Tytgat, Godelieve A.M.

Source: In European Journal of Cancer February 2017 72:235-243

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

Authors: Regenboog, Martine, van Kuilenburg, André B.P., Verheij, Joanne, Swinkels, Dorine W., Hollak, Carla E.M.

Source: In Blood Reviews November 2016 30(6):431-437

The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma

Authors: van Kuilenburg, André B.P., Meinsma, Rutger

Source: In BBA - Molecular Basis of Disease September 2016 1862(9):1504-1512

Role of Human Hypoxanthine Guanine Phosphoribosyltransferase in Activation of the Antiviral Agent T-705 (Favipiravir)

Authors: Naesens, Lieve ^*, Guddat, Luke W., Keough, Dianne T., van Kuilenburg, André B.P., Meijer, Judith, Vande Voorde, Johan, Balzarini, Jan

Source: In Molecular Pharmacology October 2013 84(4):615-629