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Associate Professor P.M. van Hasselt

Associate Professor P.M. van Hasselt

Associate Professor - medical

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Research Output (177)

HEARING LOSS IN PATIENTS WITH MUCOPOLYSACCHARIDOSES-1 AND -6 AFTER HEMATOPOIETIC CELL TRANSPLANTATION; a longitudinal analysis

van den Broek Brigitte T A, Smit Adriana L, Boelens Jaap Jan, van Hasselt Peter M 24 Jun 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 1279-1287 9 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 May 2020, In: Metabolites. 10 15 p.

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias:A deep metabolic phenotyping approach

Haijes H A, Jans J J M, van der Ham M, van Hasselt P M, Verhoeven-Duif N M 6 Mar 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-13

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping Lynne, Pras-Raves Mia L, Gerrits Johan, Tang Yuen Fung, Willemsen Marcel A, Houwen Roderick H J, van Haaften Gijs, van Hasselt Peter M, Verhoeven-Duif Nanda M, Jans Judith J M 1 Mar 2020, In: Biochimica et biophysica acta-General subjects. 1864 , p. 1-7

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Haijes H. A., Prinsen Hubertus C.M.T., de Sain-van der Velden Monique G.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Jans Judith J.M. Mar 2020, In: Molecular Genetics and Metabolism Reports. 22 , p. 1-6

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Kuper Willemijn F E, van Alfen Claudia, van Eck Linda, de Man Stella A, Willemsen Marjolein H, van Gassen Koen L I, Losekoot Monique, van Hasselt Peter M Mar 2020, In: JIMD Reports. 52 , p. 23-27 5 p.

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.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Panneman Daan M, Wortmann Saskia B, Haaxma Charlotte A, van Hasselt Peter M, Wolf Nicole I, Hendriks Yvonne, Küsters Benno, van Emst-de Vries Sjenet, van de Westerlo Els, Koopman Werner J H, Wintjes Liesbeth, van den Brandt Frans, de Vries Maaike, Lefeber Dirk J, Smeitink Jan A M, Rodenburg Richard J 19 Jan 2020, In: Clinical Genetics. 97 , p. 556-566 11 p.

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