Laboratory Genetic Metabolic Diseases

Research output

Research output per year 1993 2002 2003 2004 2005 2006 2008 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2024

• 1190 Article
• 108 Review article
• 72 Chapter
• 43 Comment/Letter to the editor
• 47 More
  • 21 Editorial
  • 11 Phd-Thesis - Research and graduation internal
  • 5 Erratum/Corrigendum
  • 3 Meeting Abstract
  • 3 Digital or Visual Products
  • 1 Book editing
  • 1 Book
  • 1 Letter
  • 1 Other contribution

Research output per year

Research output per year

Search results

• 2024

  Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics

  Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.

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

  Open Access
• 2022

  3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method

  Sasarman, F., Ferdinandusse, S., Sinasac, D. S., Fung, E., Sparkes, R., Reeves, M., Rombough, C., Sass, J. R. O., Voit, R., Ruiter, J. P. N., Koster, J., Waterham, H. R., Pasquini, E., Donati, M. A., Marquardt, T., Wanders, R. J. A. & Al-Hertani, W., 1 May 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 445-455 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown

  Sailer, S., Lackner, K., Pras-Raves, M. L., Wever, E. J. M., van Klinken, J. B., Dane, A. D., Geley, S., Koch, J., Golderer, G., Werner-Felmayer, G., Keller, M. A., Zwerschke, W., Vaz, F. M., Werner, E. R. & Watschinger, K., 1 Jun 2022, In: Journal of Lipid Research. 63, 6, 100222.

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

  Open Access
  1 Citation (Scopus)

• A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

  Hauth, I., Waterham, H. R., Wanders, R. J. A., van der Crabben, S. N. & van Karnebeek, C. D. M., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006185.

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

  Open Access
  8 Citations (Scopus)

• Angiopoietin-like 4 governs diurnal lipoprotein lipase activity in brown adipose tissue

  van Eenige, R., in het Panhuis, W., Schönke, M., Jouffe, C. L., Devilee, T. H., Siebeler, R., Streefland, T. C. M., Sips, H. C. M., Pronk, A. C. M., Vorderman, R. H. P., Mei, H., van Klinken, J. B., van Weeghel, M., Uhlenhaut, N. H., Kersten, S., Rensen, P. C. N. & Kooijman, S., 1 Jun 2022, In: Molecular metabolism. 60, 101497.

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

  Open Access
  8 Citations (Scopus)

• An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

  Vaz, F. M., van Lenthe, H., Vervaart, M. A. T., Stet, F. S., Klinkspoor, J. H., Vernon, H. J., Goorden, S. M. I., Houtkooper, R. H., Kulik, W. & Wanders, R. J. A., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 29-37 9 p.

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

  Open Access
  10 Citations (Scopus)

• A saturated map of common genetic variants associated with human height

  23andMe Research Team, LifeLines Cohort Study, Understanding Society Scientific Group, VA Million Veteran Program, DiscovEHR (DiscovEHR and MyCode Community Health Initiative), eMERGE (Electronic Medical Records and Genomics Network) & The PRACTICAL consortium, Oct 2022, In: NATURE. 610, 7933, p. 704-712 9 p.

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

  Open Access
  136 Citations (Scopus)

• Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

  Thompson, K., Bianchi, L., Rastelli, F., Piron-Prunier, F., Ayciriex, S., Besmond, C., Hubert, L., Barth, M., Barbosa, I. A., Deshpande, C., Chitre, M., Mehta, S. G., Wever, E. J. M., Marcorelles, P., Donkervoort, S., Saade, D., Bönnemann, C. G., Chao, K. R., Cai, C., Iannaccone, S. T., & 6 othersDean, A. F., McFarland, R., Vaz, F. M., Delahodde, A., Taylor, R. W. & Rötig, A., 14 Apr 2022, In: Human Genetics and Genomics Advances. 3, 2, 100097.

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

  Open Access
  1 Citation (Scopus)

• Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina

  Swinkels, D., Das, Y., Kocherlakota, S., Vinckier, S., Wever, E., van Kampen, A. H. C., Vaz, F. M. & Baes, M., 1 Jan 2022, In: Cells. 11, 1, 161.

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

  Open Access
  12 Citations (Scopus)

• Characterization of metabolic alterations of chronic lymphocytic leukemia in the lymph node microenvironment

  Chen, Z., Simon-Molas, H., Cretenet, G., Valle-Argos, B., Smith, L. D., Forconi, F., Schomakers, B. V., van Weeghel, M., Bryant, D. J., van Bruggen, J. A. C., Peters, F. S., Rathmell, J. C., van der Windt, G. J. W., Kater, A. P., Packham, G. & Eldering, E., 11 Aug 2022, In: Blood. 140, 6, p. 630-643 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu

  Kezic, S., McAleer, M. A., Jakasa, I., Goorden, S. M. I., der Vlugt, K. G. V., Beers-Stet, F. S., Meijer, J., Roelofsen, J., Nieman, M. M., van Kuilenburg, A. B. P. & Irvine, A. D., Jun 2022, In: British Journal of Dermatology. 186, 6, p. 988-996 9 p.

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

  Open Access
  8 Citations (Scopus)

• Clustered Mendelian randomization analyses identify distinct and opposing pathways in the association between genetically influenced insulin-like growth factor-1 and type 2 diabetes mellitus

  Wang, W., Tesfay, E. B., van Klinken, J. B., Willems van Dijk, K., Bartke, A., van Heemst, D. & Noordam, R., 13 Dec 2022, In: International journal of epidemiology. 51, 6, p. 1874-1885 12 p.

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

  Open Access
  6 Citations (Scopus)

• Considerations Regarding Public Use of Longevity Interventions

  Liu, Y. J., McIntyre, R. L. & Janssens, G. E., 2022, In: Frontiers in aging. 3, p. 903049 903049.

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

  Open Access

• D-2-Hydroxyglutarate is an anti-inflammatory immunometabolite that accumulates in macrophages after TLR4 activation

  de Goede, K. E., Harber, K. J., Gorki, F. S., Verberk, S. G. S., Groh, L. A., Keuning, E. D., Struys, E. A., van Weeghel, M., Haschemi, A., de Winther, M. P. J., van Dierendonck, X. A. M. H. & van den Bossche, J., 1 Sept 2022, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1868, 9, 166427.

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

  Open Access
  16 Citations (Scopus)

• D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

  Werner, K. M., Cox, A. J., Qian, E., Jain, P., Ji, W., Tikhonova, I., Castaldi, C., Bilguvar, K., Knight, J., Ferdinandusse, S., Fawaz, R., Jiang, Y-H., Gallagher, P. G., Bizzarro, M., Gruen, J. R., Bale, A. & Zhang, H., Jan 2022, In: American journal of medical genetics. Part A. 188, 1, p. 357-363 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  3 Citations (Scopus)

• Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

  Care4Rare Canada Consortium, 1 Nov 2022, In: Human Molecular Genetics. 31, 21, p. 3597-3612 16 p.

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

  Open Access
  12 Citations (Scopus)

• Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil: A Note of Caution Based on a Large Prospective Clinical Study

  de With, M., Knikman, J., de Man, F. M., Lunenburg, C. A. T. C., Henricks, L. M., van Kuilenburg, A. B. P., Maring, J. G., van Staveren, M. C., de Vries, N., Rosing, H., Beijnen, J. H., Pluim, D., Modak, A., Imholz, A. L. T., van Schaik, R. H. N., Schellens, J. H. M., Gelderblom, H., Cats, A., Guchelaar, H-J., Mathijssen, R. H. J., & 2 othersSwen, J. J. & Meulendijks, D., Jul 2022, In: Clinical Pharmacology and Therapeutics. 112, 1, p. 62-68 7 p.

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

  Open Access
  29 Citations (Scopus)

• Divergent remodeling of the skeletal muscle metabolome over 24 h between young, healthy men and older, metabolically compromised men

  Harmsen, J-F., van Weeghel, M., Parsons, R., Janssens, G. E., Wefers, J., van Moorsel, D., Hansen, J., Hoeks, J., Hesselink, M. K. C., Houtkooper, R. H. & Schrauwen, P., 13 Dec 2022, In: Cell reports. 41, 11, 111786.

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

  Open Access
  3 Citations (Scopus)

• Duodenal mucosal resurfacing with a GLP-1 receptor agonist increases postprandial unconjugated bile acids in patients with insulin-dependent type 2 diabetes

  Meiring, S., Meessen, E. C. E., van Baar, A. C. G., Holleman, F., Nieuwdorp, M., Olde Damink, S. W., Schaap, F. G., Vaz, F. M., Groen, A. K., Soeters, M. R. & Bergman, J. J. G. H. M., 1 Feb 2022, In: American journal of physiology. Endocrinology and metabolism. 322, 2, p. E132-E140

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

  Open Access
  10 Citations (Scopus)

• Equal force generation potential of trabecular and compact wall ventricular cardiomyocytes

  Faber, J. W., Wüst, R. C. I., Dierx, I., Hummelink, J. A., Kuster, D. W. D., Nollet, E., Moorman, A. F. M., Sánchez-Quintana, D., van der Wal, A. C., Christoffels, V. M. & Jensen, B., 18 Nov 2022, In: iScience. 25, 11, 105393.

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

  Open Access
  3 Citations (Scopus)

• Ether lipid transfer across the blood-brain and placental barriers does not improve by inactivation of the most abundant ABC transporters

  Dorninger, F., Vaz, F. M., Waterham, H. R., Klinken, J. B. V., Zeitler, G., Forss-Petter, S., Berger, J. & Wiesinger, C., 15 Oct 2022, In: Brain Research Bulletin. 189, p. 69-79 11 p.

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

  Open Access
  3 Citations (Scopus)

• Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

  Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., 1 Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 804-818 15 p.

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

  Open Access
  4 Citations (Scopus)

• Healthy aging and muscle function are positively associated with NAD+ abundance in humans

  Janssens, G. E., Grevendonk, L., Zapata Perez, R., Schomakers, B. V., den Bosch, J. D. V., Geurts, J., van Weeghel, M., Schrauwen, P., Houtkooper, R. H. L. & Hoeks, J., 17 Feb 2022, In: Nature Aging. 2, p. 254-263

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

  Open Access

• HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

  O'Donohue, M-F., da Costa, L., Lezzerini, M., Unal, S., Joret, C., Bartels, M., Brilstra, E., Scheijde-Vermeulen, M., Wacheul, L., de Keersmaecker, K., Vereecke, S., Labarque, V., Saby, M., Lefevre, S. D., Platon, J., Montel-Lehry, N., Laugero, N., Lacazette, E., van Gassen, K., Houtkooper, R. H., & 8 othersSimsek-Kiper, P. O., Leblanc, T., Yarali, N., Cetinkaya, A., Akarsu, N. A., Gleizes, P-E., Lafontaine, D. L. J. & MacInnes, A. W., 26 May 2022, In: Blood. 139, 21, p. 3111-3126 16 p.

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

  Open Access
  13 Citations (Scopus)

• HIF-1α Stabilization in Flagellin-Stimulated Human Bronchial Cells Impairs Barrier Function

  Ramirez-Moral, I., Ferreira, B. L., Butler, J. M., van Weeghel, M., Otto, N. A., de Vos, A. F., Yu, X., de Jong, M. D., Houtkooper, R. H. & van der Poll, T., 1 Feb 2022, In: Cells. 11, 3, 391.

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

  Open Access
  1 Citation (Scopus)

• Human alveolar macrophages do not rely on glucose metabolism upon activation by lipopolysaccharide

  Pereverzeva, L., van Linge, C. C. A., Schuurman, A. R., Klarenbeek, A. M., Ramirez Moral, I., Otto, N. A., Peters-Sengers, H., Butler, J. M., Schomakers, B. V., van Weeghel, M., Houtkooper, R. H., Wiersinga, W. J., Bonta, P. I., Annema, J. T., de Vos, A. F. & van der Poll, T., 1 Oct 2022, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1868, 10, 166488.

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

  Open Access
  8 Citations (Scopus)

• Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients

  Wasim, M., Khan, H. N., Ayesha, H., Iqbal, M., Tawab, A., Irfan, M., Kanhai, W., Goorden, S. M. I., Stroomer, L., Salomons, G., Vaz, F. M., Karnebeek, C. D. M. V. & Awan, F. R., 28 Mar 2022, In: Journal of pediatric endocrinology & metabolism. 35, 3, p. 325-332 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Indoleamine 2,3-dioxygenase (IDO)-1 and IDO-2 activity and severe course of COVID-19

  Amsterdam UMC Covid-19 Biobank & also on behalf of the Amsterdam UMC COVID-19 Biobank Study Group, 2022, In: Journal of pathology. 256, 3

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

  Open Access
  22 Citations (Scopus)

• Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets

  di'Narzo, A. F., Houten, S. M., Kosoy, R., Huang, R., Vaz, F. M., Hou, R., Wei, G., Wang, W., Comella, P. H., Dodatko, T., Rogatsky, E., Stojmirovic, A., Brodmerkel, C., Perrigoue, J., Hart, A., Curran, M., Friedman, J. R., Zhu, J., Agrawal, M., Cho, J., & 9 othersUngaro, R., Dubinsky, M. C., Sands, B. E., Suárez-Fariñas, M., Schadt, E. E., Colombel, J-F., Kasarskis, A., Hao, K. & Argmann, C., 1 Mar 2022, In: Gastroenterology. 162, 3, p. 828-843.e11 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  26 Citations (Scopus)

• International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

  Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelman, M. O., Tritos, N. A., Halper, A., Lachmann, R. H., Davison, J., Raymond, G. V., Lund, T., Orchard, P. J., Kuehl, J-S., Lindemans, C. A., Caruso, P., & 9 othersTurk, B. R., Moser, A. B., Vaz, F. M., Ferdinandusse, S., Kemp, S., Fatemi, A., Eichler, F. S., Huffnagel, I. C. & Regelmann, M. O., 22 Nov 2022, In: Neurology. 99, 21, p. 940-951 12 p.

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

  Open Access
  30 Citations (Scopus)

• Intracellular pyruvate levels positively correlate with cytokine production capacity in tolerant monocytes from patients with pneumonia

  Otto, N. A., Butler, J. M., Schuurman, A. R., Brands, X., Haak, B. W., Klarenbeek, A. M., van Weeghel, M., Houtkooper, R. H., Jakobs, M. E., Faber, D. R., de Vos, A. F., Wiersinga, W. J., Scicluna, B. P. & van der Poll, T., 1 Nov 2022, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1868, 11, 166519.

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

  Open Access
  3 Citations (Scopus)

• Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

  NIHR BioResource Study Group, 22 Nov 2022, In: Blood. 6, 22, p. 5829-5834 6 p.

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

  Open Access
  1 Citation (Scopus)

• Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

  Blankestijn, M., Bloks, V. W., Struik, D., Huijkman, N., Kloosterhuis, N., Wolters, J. C., Wanders, R. J. A., Vaz, F. M., Islinger, M., Kuipers, F., van de Sluis, B., Groen, A. K., Verkade, H. J. & Jonker, J. W., Dec 2022, In: Scientific reports. 12, 1, p. 2512 2512.

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

  Open Access
  8 Citations (Scopus)

• Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy

  Jaeger, B., Corpeleijn, W., Dijsselhof, M., Goorden, S., Haverkamp, J., Langeveld, M., Waterham, H., Westerbeek, E. & Bosch, A. M., 1 Dec 2022, In: Neonatology. 119, 6, p. 777-780 4 p.

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

  Open Access
  2 Citations (Scopus)

• Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

  Paisiou, A., Rogalidou, M., Pons, R., Ioannidou, E., Dimakou, K., Papadopoulou, A., Vaz, F. M., Vessalas, G., Goorden, S. M. I., Roelofsen, J., Zoetekouw, A., Nieman, M. M., Dimitriou, E., Moraitou, M., Peristeri, I., Michelakakis, H. & van Kuilenburg, A. B. P., 1 Mar 2022, In: Molecular Genetics and Metabolism Reports. 30, 100829.

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

  Open Access
  2 Citations (Scopus)

• Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

  eMERGE Consortium & FinnGen, 1 May 2022, In: Nature Genetics. 54, 5, p. 560-572 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  167 Citations (Scopus)

• Multi-omics analysis identifies essential regulators of mitochondrial stress response in two wild-type C. elegans strains

  Gao, A. W., el Alam, G., Lalou, A., Li, T. Y., Molenaars, M., Zhu, Y., Overmyer, K. A., Shishkova, E., Hof, K., Bou Sleiman, M., Houtkooper, R. H., Coon, J. J. & Auwerx, J., 18 Feb 2022, In: iScience. 25, 2, 103734.

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

  Open Access
  8 Citations (Scopus)

• Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

  Hermans, M. E., van Weeghel, M., Vaz, F. M., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., van Kuilenburg, A. B. P., Pras-Raves, M. L., Wamelink, M. M. C., Wanders, R. J. A., Welsink-Karssies, M. M. & Bosch, A. M., Nov 2022, In: Journal of Inherited Metabolic Disease. 45, 6, p. 1094-1105 12 p.

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

  Open Access
  7 Citations (Scopus)

• Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics

  van Gerven, M. R., Bozsaky, E., Matser, Y. A. H., Vosseberg, J., Taschner-Mandl, S., Koster, J., Tytgat, G. A. M., Molenaar, J. J. & van den Boogaard, M., Jun 2022, In: Cancer science. 113, 6, p. 2167-2178 12 p.

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

  Open Access
  6 Citations (Scopus)

• Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

  Veenvliet, A. R. J., Garrelfs, M. R., Udink ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., 1 Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 100873.

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

  Open Access
  2 Citations (Scopus)

• 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., 1 Jan 2022, In: Brain. 145, 1, p. 105-118 14 p.

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

  Open Access
  20 Citations (Scopus)

• Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

  Verheyen, S., Blatterer, J., Speicher, M. R., Bhavani, G. S., Boons, G-J., Ilse, M-B., Andrae, D., Sproß, J., Vaz, F. M., Kircher, S. G., Posch-Pertl, L., Baumgartner, D., Lübke, T., Shah, H., Al Kaissi, A., Girisha, K. M. & Plecko, B., 1 Oct 2022, In: Journal of medical genetics. 59, 10, p. 957-964 8 p.

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

  Open Access
  30 Citations (Scopus)

• Parents' views on accepting, declining, and expanding newborn bloodspot screening

  van der Pal, S. M., Wins, S., Klapwijk, J. E., van Dijk, T., Kater-Kuipers, A., van der Ploeg, C. P. B., Jans, S. M. P. J., Kemp, S., Verschoof-Puite, R. K., van den Bosch, L. J. M. & Henneman, L., 1 Aug 2022, In: PLOS ONE. 17, 8 August, e0272585.

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

  Open Access
  3 Citations (Scopus)

• Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study

  Eskes, E. C. B., Beishuizen, C. R. L., Corazolla, E. M., van Middelaar, T., Brands, M. M. M. G., Dekker, H., van de Mheen, E., Langeveld, M., Hollak, C. E. M. & Sjouke, B., 1 Dec 2022, In: Orphanet Journal of Rare Diseases. 17, 1, 383.

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

  Open Access

• Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters

  van Roermund, C. W. T., IJlst, L., Linka, N., Wanders, R. J. A. & Waterham, H. R., 19 Jan 2022, In: Frontiers in cell and developmental biology. 9, 788921.

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

  Open Access
  4 Citations (Scopus)

• Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

  Weinhofer, I., Buda, A., Kunze, M., Palfi, Z., Traunfellner, M., Hesse, S., Villoria-Gonzalez, A., Hofmann, J. R., Hametner, S., Regelsberger, G. N., Moser, A. B., Eichler, F., Kemp, S., Bauer, J., Kühl, J. R-S., Forss-Petter, S. & Berger, J., 1 Dec 2022, In: Communications Biology. 5, 1, 944.

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

  Open Access
  6 Citations (Scopus)

• Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

  Gong, Y., Laheji, F., Berenson, A., Qian, A., Park, S-O., Kok, R., Selig, M., Hahn, R., Sadjadi, R., Kemp, S. & Eichler, F., 1 Jun 2022, In: Cells. 11, 11, 1842.

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

  Open Access
  2 Citations (Scopus)

• Polar metabolomics in human muscle biopsies using a liquid-liquid extraction and full-scan LC-MS

  Schomakers, B. V., Hermans, J., Jaspers, Y. R. J., Salomons, G., Vaz, F. M., van Weeghel, M. & Houtkooper, R. H., 17 Jun 2022, In: STAR Protocols. 3, 2, 101302.

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

  Open Access
  12 Citations (Scopus)

• Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report

  Stolwijk, N. N., Langeveld, M., Jacobs, B. A. W., Vogt, L., Haverkamp, J. A., Ferdinandusse, S. & Hollak, C. E. M., 1 Sept 2022, In: JIMD reports. 63, 5, p. 407-413 7 p.

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

  Open Access

• Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans

  Liu, Y. J., Gao, A. W., Smith, R. L., Janssens, G. E., Panneman, D. M., Jongejan, A., van Weeghel, M., Vaz, F. M., Silvestrini, M. J., Lapierre, L. R., MacInnes, A. W. & Houtkooper, R. H., 1 Dec 2022, In: Scientific reports. 12, 1, 3350.

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

  Open Access
  5 Citations (Scopus)