Metabolic diseases research

2024

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders

Schwantje, M., Mosegaard, S., Knottnerus, S. J. G., van Klinken, J. B., Wanders, R. J., van Lenthe, H., Hermans, J., IJlst, L., Denis, S. W., Jaspers, Y. R. J., Fuchs, S. A., Houtkooper, R. H., Ferdinandusse, S. & Vaz, F. M., 29 Feb 2024, In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 38, 4, e23478.

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2023

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

Crefcoeur, L. L., Heiner-Fokkema, M. R., Maase, R. E., Visser, G. & de Sain-van der Velden, M. G. M., Jan 2023, In: JIMD Reports. 64, 1, p. 57-64 8 p.

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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 othersNieuwenhuis, 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.

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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 27 Nov 2023, In: Journal of Medical Genetics. 60, 12, p. 1177-1185 9 p., jmg-2023-109206.

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Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic Trial

Translated title of the contribution: Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic TrialNasser Samra, N., Morani, I., Bayan, H., Bakry, D., Shaalan, M., Saadi, H., Beni Shrem, S., Sawaed, A., Kok, G., Muffels, I. J., Fuchs, S. A., Shapira-Rootman, M., Mor-Shaked, H. & Mandel, H., Jun 2023, In: Harefuah. 162, 6, p. 344-351 8 p.

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2022

ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle

Singareddy, S. S., Roessler, H. I., McClenaghan, C., Ikle, J. M., Tryon, R. C., Haaften, G. & Nichols, C. G., Jan 2022, In: Journal of Physiology (London). 600, 2, p. 299-312 14 p.

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Metabool onderzoek bij ontwikkelingsachterstand

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

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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.

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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.

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Behavioral and cognitive functioning in individuals with Cantú syndrome

Roessler, H. I., van Der Heuvel, L. M., Shields, K., Guilliams, K. P., Knoers, N. V. A. M., van Haaften, G., Grange, D. K. & van Haelst, M. M., Aug 2021, In: American Journal of Medical Genetics. Part A. 185, 8, p. 2434-2444

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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.

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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation

Verkerk, A. O., Knottnerus, S. J. G., Portero, V., Bleeker, J. C., Ferdinandusse, S., Guan, K., IJlst, L., Visser, G., Wanders, R. J. A., Wijburg, F. A., Bezzina, C. R., Mengarelli, I. & Houtkooper, R. H., 12 Jan 2021, In: Frontiers in Pharmacology. 11, 616834.

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Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer

Knottnerus, S. J. G., van Harskamp, D., Schierbeek, H., Bleeker, J. C., Crefcoeur, L. L., Ferdinandusse, S., van Goudoever, J. B., Houtkooper, R. H., IJlst, L., Langeveld, M., Wanders, R. J. A., Vaz, F. M., Wijburg, F. A. & Visser, G., Mar 2021, In: Clinical Nutrition. 40, 3, p. 1396-1404 9 p.

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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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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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Young adult with Cantú syndrome: Dealing with a rare genetic skin disorder

Roessler, H. I., van Haaften, G. & van Haelst, M. M., 12 Jul 2021, In: BMJ Case Reports. 14, 7, p. 1-3 e243118.

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2020

Development and validation of a gas chromatography–mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma

van Harskamp, D., Knottnerus, S. J. G., Visser, G., van Goudoever, J. B. & Schierbeek, H., 1 Sept 2020, In: Analytical and Bioanalytical Chemistry. 412, 23, p. 5789-5797 9 p.

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Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates

Knottnerus, S. J. G., Mengarelli, I., Wüst, R. C. I., Baartscheer, A., Bleeker, J. C., Coronel, R., Ferdinandusse, S., Guan, K., Ijlst, L., Li, W., Luo, X., Portero, V. M., Ulbricht, Y., Visser, G., Wanders, R. J. A., Wijburg, F. A., Verkerk, A. O., Houtkooper, R. H. & Bezzina, C. R., 8 Apr 2020, In: International journal of molecular sciences. 21, 7, p. 1-15 2589.

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Large-scale Production of LGR5-positive Bipotential Human Liver Stem Cells

Schneeberger, K., Sánchez-Romero, N., Ye, S., van Steenbeek, F. G., Oosterhoff, L. A., Pla Palacin, I., Chen, C., van Wolferen, M. E., van Tienderen, G., Lieshout, R., Colemonts-Vroninks, H., Schene, I., Hoekstra, R., Verstegen, M. M. A., van der Laan, L. J. W., Penning, L. C., Fuchs, S. A., Clevers, H., De Kock, J., Baptista, P. M., & 1 othersSpee, B., Jul 2020, In: Hepatology (Baltimore, Md.). 72, 1, p. 257-270 14 p.

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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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Neonatal carnitine concentrations in relation to gestational age and weight

Crefcoeur, L. L., de Sain-van der Velden, M. G. M., Ferdinandusse, S., Langeveld, M., Maase, R., Vaz, F. M., Visser, G., Wanders, R. J. A., Wijburg, F. A., Verschoof-Puite, R. K. & Schielen, P. C. J. I., 1 Nov 2020, In: JIMD Reports. 56, 1, p. 95-104 10 p.

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Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Visser, G., Clarke, K., Ferdinandusse, S., de Haan, F. H., Houtkooper, R. H., IJlst, L., Kok, I. L., Langeveld, M., van der Pol, W. L., de Sain-van der Velden, M. G. M., Sibeijn-Kuiper, A., Takken, T., Wanders, R. J. A., van Weeghel, M., Wijburg, F. A., van der Woude, L. H., Wüst, R. C. I., Cox, P. J. & Jeneson, J. A. L., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 787-799 13 p.

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Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Knottnerus, S. J. G., Pras-Raves, M. L., van der Ham, M., Ferdinandusse, S., Houtkooper, R. H., Schielen, P. C. J. I., Visser, G., Wijburg, F. A. & de Sain-van der Velden, M. G. M., 1 Jun 2020, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1866, 6, 165725.

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Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper, W. F. E., Oostendorp, M., van den Broek, B. T. A., van Veghel, K., Nonkes, L. J. P., Nieuwenhuis, E. E. S., Fuchs, S. A., Veenendaal, T., Klumperman, J., Huisman, A., Nierkens, S. & van Hasselt, P. M., Jul 2020, In: JIMD Reports. 54, 1, p. 87-97 11 p.

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Subclinical effects of long-chain fatty acid beta-oxidation deficiency on the adult heart: A case-control magnetic resonance study: A case-control magnetic resonance study

Knottnerus, S. J. G., Bleeker, J. C., Ferdinandusse, S., Houtkooper, R. H., Langeveld, M., Nederveen, A. J., Strijkers, G. J., Visser, G., Wanders, R. J. A., Wijburg, F. A., Boekholdt, S. M. & Bakermans, A. J., Sept 2020, In: Journal of Inherited Metabolic Disease. 43, 5, p. 969-980 12 p.

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

Kuper, W. F. E., van Alfen, C., van Eck, L., de Man, S. A., Willemsen, M. H., van Gassen, K. L. I., Losekoot, M. & van Hasselt, P. M., Mar 2020, In: JIMD Reports. 52, 1, p. 23-27 5 p.

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2019

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., 1 Feb 2019, In: Genetics in Medicine. 21, 2, p. 319-330 12 p.

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GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J. W., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M. C., Duran, K. J., Bakkers, M. J. G., Ramos, R. J. J., Schellekens, P. A. W., Kroes, H. Y., Klomp, D. W. J., Black, G. C. M., Taylor, R. L., Bakkers, J. P. W., Prinsen, H. C. M. T., van der Knaap, M. S., Dansen, T. B., Rehmann, H., & 6 othersZwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 1 Jan 2019, In: Human Molecular Genetics. 28, 1, p. 96-104 9 p.

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12 Citations (Scopus)

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Rumping, L., Büttner, B., Maier, O., Rehmann, H., Lequin, M., Schlump, J. U., Schmitt, B., Schiebergen-Bronkhorst, B., Prinsen, H. C. M. T., Losa, M., Fingerhut, R., Lemke, J. R., Zwartkruis, F. J. T., Houwen, R. H. J., Jans, J. J. M., Verhoeven-Duif, N. M., Van Hasselt, P. M. & Jamra, R., 1 Mar 2019, In: JAMA Neurology. 76, 3, p. 342-350 9 p.

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3 Citations (Scopus)

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Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A., & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

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25 Citations (Scopus)

Motor function impairment is an early sign of CLN3 disease

Kuper, W. F. E., Van Alfen, C., Van Eck, L., Huijgen, B. C. H., Nieuwenhuis, E. E. S., Van Brussel, M. & Van Hasselt, P. M., 16 Jul 2019, In: Neurology. 93, 3, p. e293-e297

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Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Rubio Gozalbo, E., Bosch, A. M., van Den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 1 Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 159-168 10 p.

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

Gomez-Giro, G., Arias-Fuenzalida, J., Jarazo, J., Zeuschner, D., Ali, M., Possemis, N., Bolognin, S., Halder, R., Jäger, C., Kuper, W. F. E., Van Hasselt, P. M., Zaehres, H., Del Sol, A., Van Der Putten, H., Schöler, H. R. & Schwamborn, J. C., 30 Dec 2019, In: Acta neuropathologica communications. 7, 1, 222.

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2018

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Milev, M. P., Graziano, C., Karall, D., Kuper, W. F. E., Al-Deri, N., Cordelli, D. M., Haack, T. B., Danhauser, K., Iuso, A., Palombo, F., Pippucci, T., Prokisch, H., Saint-Dic, D., Seri, M., Stanga, D., Cenacchi, G., Van Gassen, K. L. I., Zschocke, J., Fauth, C., Mayr, J. A., & 2 othersSacher, M. & Van Hasselt, P. M., Nov 2018, In: Journal of Medical Genetics. 55, 11, p. 753-764 12 p.

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Timing of cognitive decline in CLN3 disease

Kuper, W. F. E., van Alfen, C., Rigterink, R. H., Fuchs, S. A., van Genderen, M. M. & van Hasselt, P. M., 1 Mar 2018, In: Journal of Inherited Metabolic Disease. 41, 2, p. 257-261 5 p.

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2017

A case of unexpected adult-onset neurologic decline in CLN3-associated retinal degeneration

Kuper, W. F. E., Van Alfen, C., Van Eck, L., Van Den Broek, B. T. A., Huisman, A., Van Genderen, M. M. & Van Hasselt, P. M., 1 Dec 2017, In: JAMA Ophthalmology. 135, 12, p. 1451-1453 3 p.

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Severe fat accumulation in multiple organs in pediatric autopsies: An uncommon but significant finding

Bleeker, J. C., Visser, G., Wijburg, F. A., Ferdinandusse, S., Rwaterham, H. & Nikkels, P. G. J., 21 Jul 2017, In: Pediatric and Developmental Pathology. 20, 4, p. 269-276 8 p.

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2016

Sirtuin activation as a therapeutic approach against inborn errors of metabolism

Bleeker, J. C. & Houtkooper, R. H., 1 Jul 2016, In: Journal of Inherited Metabolic Disease. 39, 4, p. 565-572 8 p.

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2014

Hereditaire fructose-intolerantie

Translated title of the contribution: Hereditary fructose intoleranceRumping, L., Waterham, H. R., Kok, I. L., van Hasselt, P. M. & Visser, G., 2014, In: Nederlands Tijdschrift voor Geneeskunde. 158, p. A6889 4 p.

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2009

Seroconversion to HCoV-NL63 in Rhesus Macaques

Dijkman, R., Mulder, H. L., Rumping, L., Kraaijvanger, I., Deijs, M., Jebbink, M. F., Verschoor, E. J. & van der Hoek, L., Dec 2009, In: Viruses [E]. 1, 3, p. 647-56 10 p.

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Metabolic diseases research

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