Peter van Hasselt

2024

High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

Eskandari, S. K., Revenich, E. G. M., Pot, D. J., de Boer, F., Bierings, M., van Spronsen, F. J., van Hasselt, P. M., Lindemans, C. A. & Lubout, C. M. A., 15 Feb 2024, In: New England Journal of Medicine. 390, 7, p. 623-629 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy

Al-Saady, M. L., Galabova, H., Schoenmakers, D. H., Beerepoot, S., Lindemans, C., van Hasselt, P. M., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., Jul 2024, In: Journal of Inherited Metabolic Disease. 47, 4, p. 792-804 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Bhat, S., Rousseau, J., Michaud, C., Lourenço, C. M., Stoler, J. M., Louie, R. J., Clarkson, L. K., Lichty, A., Koboldt, D. C., Reshmi, S. C., Sisodiya, S. M., Hoytema van Konijnenburg, E. M. M., Koop, K., van Hasselt, P. M., Démurger, F., Dubourg, C., Sullivan, B. R., Hughes, S. S., Thiffault, I. & Tremblay, E. S. & 4 others, Accogli, A., Srour, M., Blunck, R. & Campeau, P. M., 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 761-777 17 p.

Research output: Contribution to journal › Article › Academic › peer-review

Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination

Ayuso-García, P., Sánchez-Rueda, A., Velasco-Avilés, S., Tamayo-Caro, M., Ferrer-Pinós, A., Huarte-Sebastian, C., Alvarez, V., Riobello, C., Jiménez-Vega, S., Buendia, I., Cañas-Martin, J., Fernández-Susavila, H., Aparicio-Rey, A., Esquinas-Román, E. M., Ponte, C. R., Guhl, R., Laville, N., Pérez-Andrés, E., Lavín, J. L. & González-Lopez, M. & 23 others, Cámara, N. M., Aransay, A. M., Lozano, J. J., Sutherland, J. D., Barrio, R., Martinez-Chantar, M. L., Azkargorta, M., Elortza, F., Soriano-Navarro, M., Matute, C., Sánchez-Gómez, M. V., Bayón-Cordero, L., Pérez-Samartín, A., Bravo, S. B., Kurz, T., Lama-Díaz, T., Blanco, M. G., Haddad, S., Record, C. J., van Hasselt, P. M., Reilly, M. M., Varela-Rey, M. & Woodhoo, A., 12 Apr 2024, In: Science advances. 10, 15, eadm7600.

Research output: Contribution to journal › Article › Academic › peer-review

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Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Laugwitz, L., Schoenmakers, D. H., Adang, L. A., Beck-Woedl, S., Bergner, C., Bernard, G., Bley, A., Boyer, A., Calbi, V., Dekker, H., Eichler, F., Eklund, E., Fumagalli, F., Gavazzi, F., Grønborg, S. W., van Hasselt, P., Langeveld, M., Lindemans, C., Mochel, F. & Oberg, A. & 8 others, Ram, D., Saunier-Vivar, E., Schöls, L., Scholz, M., Sevin, C., Zerem, A., Wolf, N. I. & Groeschel, S., Mar 2024, In: European Journal of Paediatric Neurology. 49, p. 141-154 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

van Berkel, A. A., Lammertse, H. C. A., Öttl, M., Koopmans, F., Misra-Isrie, M., Meijer, M., Dilena, R., van Hasselt, P. M., Engelen, M., van Haelst, M., Smit, A. B., van der Sluis, S., Toonen, R. F. & Verhage, M., Jan 2024, In: Biological psychiatry global open science. 4, 1, p. 284-298 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Apr 2024, In: Genetics in Medicine. 26, 4, 101039.

Research output: Contribution to journal › Article › Academic › peer-review

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

Parenti, G., Fecarotta, S., Alagia, M., Attaianese, F., Verde, A., Tarallo, A., Gragnaniello, V., Ziagaki, A., Guimaraes, M. J., Aguiar, P., Hahn, A., Azevedo, O., Donati, M. A., Kiec-Wilk, B., Scarpa, M., van der Beek, N. A. M. E., Del Toro Riera, M., Germain, D. P., Huidekoper, H. & van den Hout, J. M. P. & 31 others, van der Ploeg, A. T., Zeman, J., Witters, P., Weinhold, N., Vijay, S., van Hasselt, P. M., Ullrich, K., Tournev, I., Salviati, A., Rutsch, F., Roland, D., Rokicki, D., Rodrigues, E., Pfliegler, G., Miclea, D., Martins, E., Martín-Hernández, E., Komninaka, V., Kingma, S., Jones, S., Hiwot, T. G., Hennermann, J., Guffon-Fouilhoux, N., Grosso, S., López, A. G. M., Gasperini, S., Gaspar, A. M., Ferreira, A., Eyskens, F., Dobbelaere, D., 1 Nov 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 408.

Research output: Contribution to journal › Review article › peer-review

Open Access

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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

Open Access

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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 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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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels, I. J. J., Schene, I. F., Rehmann, H., Massink, M. P. G., van der Wal, M. M., Bauder, C., Labeur, M., Armando, N. G., Lequin, M. H., Houben, M. L., Giltay, J. C., Haitjema, S., Huisman, A., Vansenne, F., Bluvstein, J., Pappas, J., Shailee, L. V., Zarate, Y. A., Mokry, M. & van Haaften, G. W. & 5 others, Nieuwenhuis, E. E. S., Refojo, D., van Wijk, F., Fuchs, S. A. & van Hasselt, P. M., 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 146-160 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

Development of a compounded propofol nanoemulsion using multiple non-invasive process analytical technologies

Rooimans, T., Damen, M., Markesteijn, C. M. A., Schuurmans, C. C. L., de Zoete, N. H. C., van Hasselt, P. M., Hennink, W. E., van Nostrum, C. F., Hermes, M., Besseling, R. & Vromans, H., 10 Jun 2023, In: International Journal of Pharmaceutics. 640, 122960.

Research output: Contribution to journal › Article › Academic › peer-review

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Evolutionary conservation of the fidelity of transcription

Chung, C., Verheijen, B. M., Navapanich, Z., McGann, E. G., Shemtov, S., Lai, G.-J., Arora, P., Towheed, A., Haroon, S., Holczbauer, A., Chang, S., Manojlovic, Z., Simpson, S., Thomas, K. W., Kaplan, C., van Hasselt, P., Timmers, M., Erie, D., Chen, L. & Gout, J.-F. & 1 others, Vermulst, M., 20 Mar 2023, In: Nature Communications. 14, 1, p. 1-15 1547.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

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Isolated neurological presentations of mevalonate kinase deficiency

Hoytema van Konijnenburg, E. M. M., Oussoren, E., Frenkel, J. & van Hasselt, P. M., Jan 2023, In: JIMD Reports. 64, 1, p. 53-56 4 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Macrocephaly and developmental delay caused by missense variants in RAB5C

Koop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., Osmond, M., Graham, G., Sawyer, S., Conboy, E., Vetrini, F., Treat, K., Płoski, R., Pienkowski, V. M., Kłosowska, A., Fieg, E., Krier, J., Mallebranche, C., Alban, Z. & Aldinger, K. A. & 29 others, Ritter, D., Macnamara, E., Sullivan, B., Herriges, J., Alaimo, J. T., Helbig, C., Ellis, C. A., Eyk, C., Gecz, J., Farrugia, D., Osei-Owusu, I., Adès, L., Boogaard, M.-J., Fuchs, S., Bakker, J., Duran, K., Dawson, Z. D., Lindsey, A., Huang, H., Baldridge, D., Silverman, G. A., Grant, B. D., Raizen, D., Network, U. D., Haaften, G., Pak, S. C., Rehmann, H., Schedl, T. & van Hasselt, P., 1 Nov 2023, In: Human molecular genetics. 32, 21, p. 3063-3077 15 p., 37552066.

Research output: Contribution to journal › Article › Academic › peer-review

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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

Al-Saady, M., Beerepoot, S., Plug, B. C., Breur, M., Galabova, H., Pouwels, P. J. W., Boelens, J. J., Lindemans, C., van Hasselt, P. M., Matzner, U., Vanderver, A., Bugiani, M., van der Knaap, M. S. & Wolf, N. I., Jul 2023, In: Annals of Clinical and Translational Neurology. 10, 7, p. 1146-1159 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

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2022

Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts

Chang, K. T., Jezek, J., Campbell, A. N., Stieg, D. C., Kiss, Z. A., Kemper, K., Jiang, P., Lee, H. O., Kruger, W. D., van Hasselt, P. M. & Strich, R., 18 Feb 2022, In: iScience. 25, 2, 103823.

Research output: Contribution to journal › Article › Academic › peer-review

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B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome

Nataraj, R., Hiwarkar, P., Bonney, D., Campbell, H., Jones, S., Deambrosis, D., Evans, P., Poulton, K., van Hasselt, P. M., Bierings, M., Boelens, J. J., Lindemans, C. A. & Wynn, R., Jan 2022, In: Bone Marrow Transplantation. 57, 1, p. 38-42 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Bilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography

Muijzer, M. B., Kroes, H. Y., van Hasselt, P. M. & Wisse, R. P. L., Apr 2022, In: Clinical case reports. 10, 4, p. 1-6 e05637.

Research output: Contribution to journal › Article › Academic › peer-review

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Disorders in the transport of copper, iron, magnesium, manganese, selenium and zinc

van Hasselt, P. M., Clayton, P. T. & Houwen, R. H. J., 24 Jun 2022, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 631-651 21 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Metabool onderzoek bij ontwikkelingsachterstand

Koop, K., Hoytema van Konijnenburg, E., Haijes-Siepel, H. & van Hasselt, P., 1 Sept 2022, In: Praktische Pediatrie. 16, 3, 3.

Research output: Contribution to journal › Article › Professional

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

Schoenmakers, D. H., Beerepoot, S., van den Berg, S., Adang, L., Bley, A., Boelens, J. J., Fumagalli, F., Goettsch, W. G., Grønborg, S., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Lindemans, C., Mochel, F., Mol, P. G. M., Sevin, C., Zerem, A., Schöls, L. & Wolf, N. I., 14 Feb 2022, In: Orphanet Journal of Rare Diseases. 17, 1, 48.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., De Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., van Hasselt, P. M., Wilcox, G., Morris, A. A. M. & Jameson, E. A. & 15 others, de la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J. & van Spronsen, F. J., Sept 2022, In: Journal of Inherited Metabolic Disease. 45, 5, p. 952-962 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Beerepoot, S., Heijst, H., Roos, B., Wamelink, M. M. C., Boelens, J. J., Lindemans, C. A., Van Hasselt, P. M., Jacobs, E. H., Van Der Knaap, M. S., Teunissen, C. E. & Wolf, N. I., 29 Mar 2022, In: Brain : a journal of neurology. 145, 1, p. 105-118 14 p.

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8 Citations (Scopus)

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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.

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Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family

Honingh, A. K., Kruithof, Y. L., Kuper, W. F. E., van Hasselt, P. M. & Sterkenburg, P. S., 12 May 2022, In: International journal of environmental research and public health. 19, 10, 5895.

Research output: Contribution to journal › Article › Academic › peer-review

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2021

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

Nonkes, L. J. P., Kuper, W. F. E., Berrens-Hogenbirk, K., Musson, R. E. A., van Hasselt, P. M. & Huisman, A., 1 Mar 2021, In: JIMD Reports. 58, 1, p. 100-103 4 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

Hellebrekers, D., Nievelstein, R. A. J., van Hasselt, P. M., van Jaarsveld, R. H., Cuppen, I. & Oegema, R., Jan 2021, In: European Journal of Medical Genetics. 64, 1, 5 p., 104120.

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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.

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

Su, X., Ramírez-Escudero, M., Sun, F., van den Dikkenberg, J. B., van Steenbergen, M. J., Pieters, R. J., Janssen, B. J. C., van Hasselt, P. M., Hennink, W. E. & van Nostrum, C. F., Dec 2021, In: Pharmaceutics. 13, 12, 2022.

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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

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

Jul 2021, In: Human Genetics. 140, 7, p. 1109-1120 12 p.

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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Muffels, I. J. J., Wiame, E., Fuchs, S. A., Massink, M. P. G., Rehmann, H., Musch, J. L. I., Van Haaften, G., Vertommen, D., van Schaftingen, E. & van Hasselt, P. M., 2021, In: Brain communications. 3, 4, p. 1-14 fcab256.

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2 Citations (Scopus)

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

Rooimans, T., Minderhoud, T., Leal, N., Vromans, H., van Nostrum, C., van Hasselt, P., 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., Sept 2021, In: Gastroenterology. 161, 3, p. 1056-1059.e5

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

van der Veer, E. L., Gielis, W. P., Weinans, H., Beek, E. J., van Hasselt, P. M. & Sakkers, R. J. B., 17 Mar 2021, In: The Journal of bone and joint surgery. American volume. 103, 6, p. 489-496 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

Kuper, W. F. E., Talsma, H. E., van Schooneveld, M. J., Pott, J. W. R., Huijgen, B. C. H., de Wit, G. C., van Hasselt, P. M. & van Genderen, M. M., Jun 2021, In: Acta Ophthalmologica. 99, 4, p. 397-404 8 p.

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

Zerjav Tansek, M., Kodric, J., Klemencic, S., Boelens, J. J., van Hasselt, P. M., Drole Torkar, A., Doric, M., Koren, A., Avcin, S., Battelino, T. & Groselj, U., Sept 2021, In: Molecular Genetics and Metabolism Reports. 28, 100779.

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2020

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

Haijes, H. A., Prinsen, H. C. M. T., de Sain-van der Velden, M. G. M., Verhoeven-Duif, N. M., van Hasselt, P. M. & Jans, J. J. M., Mar 2020, In: Molecular Genetics and Metabolism Reports. 22, p. 1-6 100551.

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 15 Sept 2020, In: Genetics in Medicine. 23, 10, p. 1-1

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Cross-omics: Integrating genomics with metabolomics in clinical diagnostics

Kerkhofs, M. H. P. M., Haijes, H. A., Marcel Willemsen, A., Van Gassen, K. L. I., Van Der Ham, M., Gerrits, J., De Sain-Van Der Velden, M. G. M., Prinsen, H. C. M. T., Van Deutekom, H. W. M., Van Hasselt, P. M., Verhoeven-Duif, N. M. & Jans, J. J. M., 18 May 2020, In: Metabolites. 10, 5, 15 p., 206.

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Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Schwantje, M., Verhagen, L. M., van Hasselt, P. M. & Fuchs, S. A., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 216-222 7 p.

Research output: Contribution to journal › Review article › peer-review

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

van den Broek, B. T. A., Smit, A. L., Boelens, J. J. & van Hasselt, P. M., Nov 2020, In: Journal of Inherited Metabolic Disease. 43, 6, p. 1279-1287 9 p.

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

van den Broek, B. T. A., van Doorn, J., Hegeman, C. V., Nierkens, S., Lindemans, C. A., Verhoeven-Duif, N., Boelens, J. J. & van Hasselt, P. M., 23 Jun 2020, In: Blood Advances. 4, 12, p. 2837-2849 13 p.

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7 Citations (Scopus)

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

Haijes, H. A., Jaeken, J. & van Hasselt, P. M., 1 Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 701-711 11 p.

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5 Citations (Scopus)

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Inborn errors of enzymes in glutamate metabolism

Rumping, L., Vringer, E., Houwen, R. H., van Hasselt, P. M., Jans, J. J. & Verhoeven-Duif, N., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 200-215 16 p.

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Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation

van den Broek, B. T. A., van Egmond-Ebbeling, M. B., Achterberg, J. A., Boelens, J. J., Vlessert, I. C., Prinsen, H. C. M. T., van Doorn, J. & van Hasselt, P. M., May 2020, In: Biology of Blood and Marrow Transplantation. 26, 5, p. 928-935 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping, L., Pras-Raves, M. L., Gerrits, J., Tang, Y. F., Willemsen, M. A., Houwen, R. H. J., van Haaften, G., van Hasselt, P. M., Verhoeven-Duif, N. M. & Jans, J. J. M., 1 Mar 2020, In: Biochimica et biophysica acta-General subjects. 1864, 3, p. 1-7 129484.

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Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction

Wolf, N. I., Breur, M., Plug, B., Beerepoot, S., Westerveld, A. S. R., van Rappard, D. F., de Vries, S. I., Kole, M. H. P., Vanderver, A., van der Knaap, M. S., Lindemans, C. A., van Hasselt, P. M., Boelens, J. J., Matzner, U., Gieselmann, V. & Bugiani, M., Feb 2020, In: Annals of Clinical and Translational Neurology. 7, 2, p. 169-180 12 p.

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Peter van Hasselt

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