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Associate Professor P.M. van Hasselt

Associate Professor - medical

  • Metabolic diseases patient care

Research Output (133)

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper Willemijn F E, Oostendorp Marlies, van den Broek Brigitte T A, van Veghel Karin, Nonkes Lourens J P, Nieuwenhuis Edward E S, Fuchs Sabine A, Veenendaal Tineke, Klumperman Judith, Huisman Albert, Nierkens Stefan, van Hasselt Peter M jul 2020, In: JIMD Reports. 54 , p. 87-97 11 p.

Hurdles in treating Hurler disease:potential routes to achieve a "real" cure

van den Broek Brigitte T A, van Doorn Jaap, Hegeman Charlotte V, Nierkens Stefan, Lindemans Caroline A, Verhoeven-Duif Nanda, Boelens Jaap Jan, van Hasselt Peter M 23 jun 2020, In: Blood Advances. 4 , p. 2837-2849 13 p.

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

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.

Metachromatic leukodystrophy and transplantation:remyelination, no cross-correction

Wolf Nicole I., Breur Marjolein, Plug Bonnie, Beerepoot Shanice, Westerveld Aimee S.R., van Rappard Diane F., de Vries Sharon I., Kole Maarten H.P., Vanderver Adeline, van der Knaap Marjo S., Lindemans Caroline A., van Hasselt Peter M., Boelens Jaap J., Matzner Ulrich, Gieselmann Volkmar, Bugiani Marianna 22 jan 2020, In: Annals of Clinical and Translational Neurology. 7 , p. 169-180 12 p.

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

Gomez-Giro Gemma, Arias-Fuenzalida Jonathan, Jarazo Javier, Zeuschner Dagmar, Ali Muhammad, Possemis Nina, Bolognin Silvia, Halder Rashi, Jäger Christian, Kuper Willemijn F.E., Van Hasselt Peter M., Zaehres Holm, Del Sol Antonio, Van Der Putten Herman, Schöler Hans R., Schwamborn Jens C. 30 dec 2019, In: Acta neuropathologica communications. 7

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

van Vliet Kimber, van Ginkel Willem G., Jahja Rianne, Daly Anne, MacDonald Anita, De Laet Corinne, Vara Roshni, Rahman Yusof, Cassiman David, Eyskens Francois, Timmer Corrie, Mumford Nicky, Bierau Jörgen, van Hasselt Peter M., Gissen Paul, Goyens Philippe J., McKiernan Patrick J., Wilcox Gisela, Morris Andrew A.M., Jameson Elisabeth A., Huijbregts Stephan C.J., van Spronsen Francjan J. 4 dec 2019, In: Orphanet Journal of Rare Diseases. 14 9 p.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Guo Hui, Li Ying, Shen Lu, Wang Tianyun, Jia Xiangbin, Liu Lijuan, Xu Tao, Ou Mengzhu, Hoekzema Kendra, Wu Huidan, Gillentine Madelyn A., Liu Cenying, Ni Hailun, Peng Pengwei, Zhao Rongjuan, Zhang Yu, Phornphutkul Chanika, Stegmann Alexander P.A., Prada Carlos E., Hopkin Robert J., Shieh Joseph T., McWalter Kirsty, Monaghan Kristin G., van Hasselt Peter M., van Gassen Koen, Bai Ting, Long Min, Han Lin, Quan Yingting, Chen Meilin, Zhang Yaowen, Li Kuokuo, Zhang Qiumeng, Tan Jieqiong, Zhu Tengfei, Liu Yaning, Pang Nan, Peng Jing, Scott Daryl A., Lalani Seema R., Azamian Mahshid, Mancini Grazia M.S., Adams Darius J., Kvarnung Malin, Lindstrand Anna, Nordgren Ann, Pevsner Jonathan, Osei-Owusu Ikeoluwa A., Romano Corrado, Calabrese Giuseppe 25 sep 2019, In: Science advances. 5

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.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Verhagen Judith M.A., van den Born Myrthe, van der Linde Herma C., G J Nikkels Peter, Verdijk Rob M., Kivlen Maryann H., van Unen Leontine M.A., Baas Annette F., Ter Heide Henriette, van Osch-Gevers Lennie, Hoogeveen-Westerveld Marianne, Herkert Johanna C., Bertoli-Avella Aida M., van Slegtenhorst Marjon A., Wessels Marja W., Verheijen Frans W., Hassel David, Hofstra Robert M.W., Hegde Ramanujan S., van Hasselt Peter M., van Ham Tjakko J., van de Laar Ingrid M.B.H. 1 sep 2019, In: Circulation. Genomic and precision medicine. 12 , p. 397-406 10 p.