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Associate Professor C. van Fluit

Associate Professor C. van Fluit

Associate Professor - medical

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Research Output (162)

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy:The European Metachromatic Leukodystrophy initiative (MLDi)

Schoenmakers Daphne H., Beerepoot Shanice, van den Berg Sibren, Adang Laura, Bley Annette, Boelens Jaap Jan, Fumagalli Francesca, Goettsch Wim G., Grønborg Sabine, Groeschel Samuel, van Hasselt Peter M., Hollak Carla E.M., Lindemans Caroline, Mochel Fanny, Mol Peter G.M., Sevin Caroline, Zerem Ayelet, Schöls Ludger, Wolf Nicole I. 14 Feb 2022, In: Orphanet Journal of Rare Diseases. 17

Internalization and transport of PEGylated lipid-based mixed micelles across Caco-2 cells mediated by scavenger receptor B1

Su Xiangjie, Ramírez-Escudero Mercedes, Sun Feilong, van den Dikkenberg Joep B., van Steenbergen Mies J., Pieters Roland J., Janssen Bert J.C., van Hasselt Peter M., Hennink Wim E., van Nostrum Cornelus F. Dec 2021, In: Pharmaceutics. 13

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

Zerjav Tansek Mojca, Kodric Jana, Klemencic Simona, Boelens Jaap Jan, van Hasselt Peter M., Drole Torkar Ana, Doric Maja, Koren Alenka, Avcin Simona, Battelino Tadej, Groselj Urh Sep 2021, In: Molecular Genetics and Metabolism Reports. 28

Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions

Rooimans Thijs, Minderhoud Tanca, Leal Nerea, Vromans Herman, van Nostrum Cornelus, van Hasselt Peter, Rodriguez M., Sun F., Oussoren C., Slot T. K., van der Ham M., Janssens G. E.P.J., de Sain-van der Velden M. G.M., Houwen R. H.J., de Koning T. J., Hennink W. E., Sep 2021, In: Gastroenterology. 161 , p. 1056-1059.e5

Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses

van den Broek Brigitte T A, Lindemans Caroline A, Boelens Jaap Jan, Delemarre Eveline M, Drylewicz Julia, Verhoeven-Duif Nanda, van Hasselt Peter M, Nierkens Stefan 24 Aug 2021, In: Blood Advances. 5 , p. 3092-3101 10 p.

Beyond nephronophthisis:Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Veldman Bram C.F., Kuper Willemijn F.E., Lilien Marc, Schuurs-Hoeijmakers Janneke H.M., Marcelis Carlo, Phan Milan, Hettinga Ymkje, Talsma Herman E., van Hasselt Peter M., Haijes Hanneke A. Jul 2021, In: American Journal of Medical Genetics, Part A. 185 , p. 2204-2210 7 p.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Parenti Ilaria, Lehalle Daphné, Nava Caroline, Torti Erin, Leitão Elsa, Person Richard, Mizuguchi Takeshi, Matsumoto Naomichi, Kato Mitsuhiro, Nakamura Kazuyuki, de Man Stella A., Cope Heidi, Shashi Vandana, Friedman Jennifer, Joset Pascal, Steindl Katharina, Rauch Anita, Muffels Irena, van Hasselt Peter M., Petit Florence, Smol Thomas, Le Guyader Gwenaël, Bilan Frédéric, Sorlin Arthur, Vitobello Antonio, Philippe Christophe, van de Laar Ingrid M.B.H., van Slegtenhorst Marjon A., Campeau Philippe M., Au Ping Yee Billie, Nakashima Mitsuko, Saitsu Hirotomo, Yamamoto Tatsuya, Nomura Yumiko, Louie Raymond J., Lyons Michael J., Dobson Amy, Plomp Astrid S., Motazacker M. Mahdi, Kaiser Frank J., Timberlake Andrew T., Fuchs Sabine A., Depienne Christel, Mignot Cyril, Acosta Maria T., Adam Margaret, Adams David R., Agrawal Pankaj B., Alejandro Mercedes E., Alvey Justin, 4 May 2021, In: Human Genetics. 140 , p. 1109-1120 12 p.

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)

Nonkes Lourens J P, Kuper Willemijn F E, Berrens-Hogenbirk Karin, Musson Ruben E A, van Hasselt Peter M, Huisman Albert 1 Mar 2021, In: JIMD Reports. 58 , p. 100-103 4 p.

Quantifying the Effects of Hip Surgery on the Sphericity of the Femoral Head in Patients with Mucopolysaccharidosis Type I

van der Veer Eline L., Gielis Willem Paul, Weinans Harry, Beek Erik J., van Hasselt Peter M., Sakkers Ralph J.B. 12 Jan 2021, In: The Journal of bone and joint surgery. American volume. 103 , p. 489-496 8 p.

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

Hellebrekers Debby, Nievelstein Rutger A J, van Hasselt Peter M, van Jaarsveld Richard H, Cuppen Inge, Oegema Renske Jan 2021, In: European Journal of Medical Genetics. 64 5 p.

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