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

• 2023

  Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

  Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.

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

  Open Access
  1 Citation (Scopus)

• Repurposing nucleoside reverse transcriptase inhibitors (NRTIs) to slow aging

  Brochard, T., McIntyre, R. L., Houtkooper, R. H., Seluanov, A., Gorbunova, V. & Janssens, G. E., Dec 2023, In: Ageing Research Reviews. 92, 102132.

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

  Open Access
• 2022

  Antineutrophil cytoplasmic antibodies in infective endocarditis: a case report and systematic review of the literature

  van Gool, I. C., Kers, J., Bakker, J. A., Rotmans, J. I., Teng, Y. K. O. & Bauer, M. P., Oct 2022, In: Clinical Rheumatology. 41, 10, p. 2949-2960 12 p.

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

  Open Access
  8 Citations (Scopus)

• Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling

  Vučković, S., Dinani, R., Nollet, E. E., Kuster, D. W. D., Buikema, J. W., Houtkooper, R. H., Nabben, M., van der Velden, J., Goversen, B. & Vuckovic, S., 1 Dec 2022, In: STEM CELL RESEARCH & THERAPY. 13, 1, 332.

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

  Open Access
  17 Citations (Scopus)

• Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

  Crefcoeur, L. L., Visser, G., Ferdinandusse, S., Wijburg, F. A., Langeveld, M. & Sjouke, B., 1 May 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 386-405 20 p.

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

  Open Access
  15 Citations (Scopus)

• How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

  Wortmann, S. B., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R. G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., Vissers, L. E. L. M., & 1 othersvan Karnebeek, C. D. M., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 663-681 19 p.

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

  Open Access
  18 Citations (Scopus)

• Immunometabolic rewiring of tubular epithelial cells in kidney disease

  van der Rijt, S., Leemans, J. C., Florquin, S., Houtkooper, R. H. & Tammaro, A., 1 Sept 2022, In: Nature Reviews Nephrology. 18, 9, p. 588-603 16 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  28 Citations (Scopus)

• Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey

  IFCC Committee on Emerging Technologies in Paediatric Laboratory Medicine, Aug 2022, In: Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. 33, 2, p. 194-208 15 p.

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

  2 Citations (Scopus)

• Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

  Gelb, M. H., Basheeruddin, K., Burlina, A., Chen, H-J., Chien, Y-H., Dizikes, G., Dorley, C., Giugliani, R., Hietala, A., Hong, X., Kao, S-M., Khaledi, H., Klug, T., Kubaski, F., Liao, H-C., Martin, M., Manning, A., Orsini, J., Peng, Y., Ranieri, E., & 6 othersRohrwasser, A., Szabo-Fresnais, N., Turgeon, C. T., Vaz, F. M., Wang, L-Y. & Matern, D., 1 Dec 2022, In: International Journal of Neonatal Screening. 8, 4, 62.

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

  Open Access
  11 Citations (Scopus)

• Long noncoding RNAs in cardiometabolic disorders

  Juni, R. P., 't Hart, K. C., Houtkooper, R. H. & Boon, R. A., 9 May 2022, In: FEBS letters. 596, 11, p. 1367-1387 21 p.

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

  Open Access
  7 Citations (Scopus)

• Personalized medicine for rare neurogenetic disorders: can we make it happen?

  van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A., Houtkooper, R. H., van Haelst, M. M. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006200.

  Research output: Contribution to journal › Review article › Academic › peer-review
  5 Citations (Scopus)

• Pharmaceutical and nutraceutical activation of FOXO3 for healthy longevity

  McIntyre, R. L., Liu, Y. J., Hu, M., Morris, B. J., Willcox, B. J., Donlon, T. A., Houtkooper, R. H. & Janssens, G. E., 1 Jun 2022, In: Ageing Research Reviews. 78, p. 101621 101621.

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

  Open Access
  15 Citations (Scopus)

• Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

  Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C. & Orchard, P. J., 2022, In: Expert Opinion on Biological Therapy. 22, 9, p. 1151-1162 12 p.

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

  Open Access
  13 Citations (Scopus)
• 2021

  A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)

  Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.

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

  Open Access
  9 Citations (Scopus)

• Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

  Politiek, F. A. & Waterham, H. R., 3 Sept 2021, In: Frontiers in immunology. 12, 724991.

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

  Open Access
  26 Citations (Scopus)

• Evolution of adrenoleukodystrophy model systems

  Montoro, R., Heine, V. M., Kemp, S. & Engelen, M., 4 May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 544-553 10 p.

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

  Open Access
  5 Citations (Scopus)

• Inherited disorders of complex lipid metabolism: A clinical review

  Xiao, C., Rossignol, F., Vaz, F. M. & Ferreira, C. R., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 809-825 17 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  13 Citations (Scopus)

• NAD+ homeostasis in human health and disease

  Zapata-Pérez, R., Wanders, R. J. A., van Karnebeek, C. D. M. & Houtkooper, R. H., 7 Jul 2021, In: EMBO molecular medicine. 13, 7, e13943.

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

  Open Access
  86 Citations (Scopus)

• Peroxisomal Metabolite and Cofactor Transport in Humans

  Chornyi, S., IJlst, L., van Roermund, C. W. T., Wanders, R. J. A. & Waterham, H. R., 11 Jan 2021, In: Frontiers in cell and developmental biology. 8, 613892.

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

  Open Access
  31 Citations (Scopus)

• The Role of AMPK Signaling in Brown Adipose Tissue Activation

  van der Vaart, J. I., Boon, M. R. & Houtkooper, R. H., 6 May 2021, In: Cells. 10, 5, 1122.

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

  Open Access
  39 Citations (Scopus)
• 2020

  Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

  Eskes, E. C. B., Sjouke, B., Vaz, F. M., Goorden, S. M. I., van Kuilenburg, A. B. P., Aerts, J. M. F. G. & Hollak, C. E. M., May 2020, In: Molecular Genetics and Metabolism. 130, 1, p. 16-26 11 p.

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

• Confounding factors from inducible systems for spatiotemporal gene expression regulation

  Wüst, R. C. I., Houtkooper, R. H. & Auwerx, J., 19 May 2020, In: Journal of cell biology. 219, 7, p. 1-4 4 p., e202003031.

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

  Open Access
  19 Citations (Scopus)

• Developments in the treatment of Fabry disease

  van der Veen, S. J., Hollak, C. E. M., van Kuilenburg, A. B. P. & Langeveld, M., 1 Sept 2020, In: Journal of Inherited Metabolic Disease. 43, 5, p. 908-921 14 p.

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

  Open Access
  72 Citations (Scopus)

• Integrating the Hallmarks of Aging Throughout the Tree of Life: A Focus on Mitochondrial Dysfunction

  van der Rijt, S., Molenaars, M., McIntyre, R. L., Janssens, G. E. & Houtkooper, R. H., 26 Nov 2020, In: Frontiers in cell and developmental biology. 8, 594416.

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

  Open Access
  50 Citations (Scopus)

• Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism

  Houten, S. M., Wanders, R. J. A. & Ranea-Robles, P., 1 May 2020, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1866, 5, 165720.

  Research output: Contribution to journal › Review article › Academic › peer-review
  74 Citations (Scopus)

• Mitochondrial cross-compartmental signalling to maintain proteostasis and longevity

  Molenaars, M., Daniels, E. G., Meurs, A., Janssens, G. E. & Houtkooper, R. H., 22 Jun 2020, In: Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 375, 1801, p. 20190414 20190414.

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

  Open Access
  7 Citations (Scopus)

• Mitochondrial fatty acid oxidation disorders: Laboratory diagnosis, pathogenesis, and the complicated route to treatment

  Wanders, R. J. A., Visser, G., Ferdinandusse, S., Vaz, F. M. & Houtkooper, R. H., 1 Sept 2020, In: Journal of Lipid and Atherosclerosis. 9, 3, p. 313-333 21 p.

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

  Open Access
  29 Citations (Scopus)
• 2019

  From molecular promise to preclinical results: HDAC inhibitors in the race for healthy aging drugs: HDAC inhibitors in the race for healthy aging drugs

  McIntyre, R. L., Daniels, E. G., Molenaars, M., Houtkooper, R. H. & Janssens, G. E., 1 Sept 2019, In: EMBO molecular medicine. 11, 9, e9854.

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

  Open Access
  68 Citations (Scopus)

• NAD + metabolism as a target for metabolic health: have we found the silver bullet?

  Connell, N. J., Houtkooper, R. H. & Schrauwen, P., 1 Jun 2019, In: Diabetologia. 62, 6, p. 888-899

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

  Open Access
  44 Citations (Scopus)

• Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

  Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., van Kuilenburg, A. B. P., Kemp, S., van Karnebeek, C. D., Waterham, H. R. & Houtkooper, R. H., 1 Mar 2019, In: Journal of Inherited Metabolic Disease. 42, 2, p. 197-208 12 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  20 Citations (Scopus)
• 2018

  Dieting bacteria cure fatty liver disease

  Houtkooper, R., 2018, In: Science Translational Medicine. 10, 432, eaat1638.

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

• Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

  Knottnerus, S. J. G., Bleeker, J. C., Wüst, R. C. I., Ferdinandusse, S., IJlst, L., Wijburg, F. A., Wanders, R. J. A., Visser, G. & Houtkooper, R. H., Mar 2018, In: Reviews in endocrine & metabolic disorders. 19, 1, p. 93-106 14 p.

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

  Open Access
  200 Citations (Scopus)

• Fetal against fatal: In utero genome editing to prevent metabolic disease

  Houtkooper, R., 2018, In: Science Translational Medicine. 10, 464, eaav3892.

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

• Forward and reverse genetics approaches to uncover metabolic aging pathways in Caenorhabditis elegans

  Gao, A. W., uit de Bos, J., Sterken, M. G., Kammenga, J. E., Smith, R. L. & Houtkooper, R. H., 2018, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 9, p. 2697-2706

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

  Open Access
  17 Citations (Scopus)

• Metabolic Flexibility as an Adaptation to Energy Resources and Requirements in Health and Disease

  Smith, R. L., Soeters, M. R., Wüst, R. C. I. & Houtkooper, R. H., 1 Aug 2018, In: Endocrine reviews. 39, 4, p. 489-517 29 p.

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

  Open Access
  333 Citations (Scopus)

• Sweet skin remedy

  Houtkooper, R., 2018, In: Science Translational Medicine. 10, 440, eaat8526.

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

• Treating phenylketonuria now Phe-sible with engineered bacteria?

  Houtkooper, R., 2018, In: Science Translational Medicine. 10, 456, eaau8878.

  Research output: Contribution to journal › Review article › Academic › peer-review
• 2017

  Bile acid analysis in human disorders of bile acid biosynthesis

  Vaz, F. M. & Ferdinandusse, S., 2017, In: Molecular Aspects of Medicine. 56, p. 10-24

  Research output: Contribution to journal › Review article › Academic › peer-review
  103 Citations (Scopus)

• Genotypes Affecting the Pharmacokinetics of Anticancer Drugs

  Bertholee, D., Maring, J. G. & van Kuilenburg, A. B. P., 2017, In: Clinical Pharmacokinetics. 56, 4, p. 317-337

  Research output: Contribution to journal › Review article › Academic › peer-review
  47 Citations (Scopus)

• Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

  Bedoyan, J. K., Yang, S. P., Ferdinandusse, S., Jack, R. M., Miron, A., Grahame, G., DeBrosse, S. D., Hoppel, C. L., Kerr, D. S. & Wanders, R. J. A., 2017, In: Molecular Genetics and Metabolism. 120, 4, p. 342-349

  Research output: Contribution to journal › Review article › Academic › peer-review
  29 Citations (Scopus)
• 2016

  Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history

  Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J. & Engelen, M., 2016, In: Nature reviews. Endocrinology. 12, 10, p. 606-615

  Research output: Contribution to journal › Review article › Academic › peer-review
  175 Citations (Scopus)

• Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

  Klouwer, F. C. C., Huffnagel, I. C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J. A., Engelen, M. & Poll-The, B. T., 2016, In: Neuropediatrics. 47, 4, p. 205-220

  Research output: Contribution to journal › Review article › Academic › peer-review
  39 Citations (Scopus)

• Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

  Regenboog, M., van Kuilenburg, A. B. P., Verheij, J., Swinkels, D. W. & Hollak, C. E. M., 2016, In: Blood Reviews. 30, 6, p. 431-437

  Research output: Contribution to journal › Review article › Academic › peer-review
  20 Citations (Scopus)

• Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum

  Wanders, R. J. A., Waterham, H. R. & Ferdinandusse, S., 2016, In: Frontiers in cell and developmental biology. 3, JAN, p. 83 83.

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

  Open Access
  235 Citations (Scopus)

• The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

  Houten, S. M., Violante, S., Ventura, F. V. & Wanders, R. J. A., 2016, In: Annual review of physiology. 78, p. 23-44

  Research output: Contribution to journal › Review article › Academic › peer-review
  458 Citations (Scopus)
• 2015

  Diagnosis, classification and treatment of mucopolysaccharidosis type I

  Langereis, E. J., van Vlies, N. & Wijburg, F. A., 2015, In: Expert opinion on orphan drugs. 3, 3, p. 307-320

  Research output: Contribution to journal › Review article › Academic › peer-review
  2 Citations (Scopus)

• Tetracycline antibiotics impair mitochondrial function and its experimental use confounds research

  Chatzispyrou, I. A., Held, N. M., Mouchiroud, L., Auwerx, J. & Houtkooper, R. H., 2015, In: Cancer research. 75, 21, p. 4446-4449

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

  Open Access
  81 Citations (Scopus)

• Zellweger spectrum disorders: clinical overview and management approach

  Klouwer, F. C. C., Berendse, K., Ferdinandusse, S., Wanders, R. J. A., Engelen, M. & Poll-The, B. T., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 151

  Research output: Contribution to journal › Review article › Academic › peer-review
  153 Citations (Scopus)
• 2014

  Metabolic functions of peroxisomes in health and disease

  Wanders, R. J. A., 2014, In: Biochimie. 98, p. 36-44

  Research output: Contribution to journal › Review article › Academic › peer-review
  175 Citations (Scopus)

• Mitochondrial response to nutrient availability and its role in metabolic disease

  Gao, A. W., Cantó, C. & Houtkooper, R. H., 2014, In: EMBO molecular medicine. 6, 5, p. 580-589

  Research output: Contribution to journal › Review article › Academic › peer-review
  111 Citations (Scopus)