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

• 2022

  Amino Acid Synthesis Deficiencies

  de Koning, T. J. & Salomons, G., 1 Jan 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 453-467 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition).

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

• Disorders of Bile Acid Synthesis

  Vaz, F. M., Cassiman, D. & Ferdinandusse, S., 1 Jan 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 1095-1112 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)

• Disorders of Complex Lipids

  Vaz, F. M., Wortmann, S. B. & Mochel, F., 1 Jan 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 981-1025 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition).

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

• Disorders of creatine metabolism

  Stöckler-Ipsiroglu, S., Mercimek-Andrews, S., Salomons, G. S. & Stockler-Ispiroglu, S., 24 Jun 2022, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 239-145 (Inborn Metabolic Diseases: Diagnosis and Treatment).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)

• Disorders of isoprenoid/cholesterol synthesis

  Waterham, H. R. & Clayton, P. T., 24 Jun 2022, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 693-703 (Inborn Metabolic Diseases: Diagnosis and Treatment).

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

• Inborn errors of non-mitochondrial fatty acid metabolism including peroxisomal disorders

  Wanders, R. J. A., Engelen, M. & Vaz, F. M., 24 Jun 2022, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 785-809 (Inborn Metabolic Diseases: Diagnosis and Treatment).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)

• Peroxisomal Disorders

  Wanders, R. J. A., Klouwer, F. C. C., Engelen, M. & Waterham, H. R., 1 Jan 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 1297-1317 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)
• 2021

  Dihydropyrimidine Dehydrogenase Deficiency and 5-Fluorouracil-Toxicity

  van Kuilenburg, A. & Gross, E., 2021, Handbook of Therapeutic Biomarkers in Cancer. Yang, S. X. & Dancey, J. E. (eds.). 2nd ed. p. 387-406

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

• Endocrine dysfunction in adrenoleukodystrophy

  Engelen, M., Kemp, S. & Eichler, F., Jan 2021, Handbook of Clinical Neurology. Elsevier B.V, p. 257-267 11 p. (Handbook of Clinical Neurology; vol. 182).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  9 Citations (Scopus)

• NBS09 Newborn Screening for X-linked Adrenoleukodystrophy

  Orsini, J. J., Moser, A., Manning, A., Brown, H. A., Eichler, F., Eyskens, F., Haynes, C. A., Kemp, S., Lehtonen, T., Oladipo, O., Schielen, P. C., Singh, R., Taylor, J., Tortorelli, S. & Vogel, B., 1 Aug 2021, Newborn Screening for X-linked Adrenoleukodystrophy: A guideline for global application development through the Clinical and Laboratory Standards Institute consensus progress. Orsini, J. (ed.). 1 ed. Clinical and Laboratory Standards Institute, p. 1 100 p.

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

• Purine and Pyrimidine Metabolism

  Kamatani, N., Hennekam, R. C. M. & van Kuilenburg, A., 2021, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: metabolic disorders. Pyeritz, R., Korf, B. & Grody, W. (eds.). 7th ed. p. 183-234

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2020

  Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants

  Lunenburg, C. A. T. C., Henricks, L. M., van Kuilenburg, A., Mathijssen, R. H. J., Schellens, J. H. M., Gelderblom, H., Guchelaar, H-J. & Swen, J. J., 2020, Pharmacogenomics and Personalized Medicine. Cecchin, E. & Stocco, G. (eds.). MDPI AG, p. 97-109

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

• Peroxisomal Disorders

  Wanders, R. J. A. & Waterham, H. R., 1 Jan 2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders. Elsevier, p. 683-708 (Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders).

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

• Purine and Pyrimidine Metabolism

  Kamatani, N., Jinnah, H. A., Hennekam, R. C. M. & van Kuilenburg, A. B. P., 1 Jan 2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders. Elsevier, p. 183-234 (Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  2 Citations (Scopus)
• 2019

  Extrapolation of variant phase in mitochondrial short-chain enoyl-CoA hydratase (ECHS1) deficiency

  Carlston, C. M., Ferdinandusse, S., Hobert, J. A., Mao, R. & Longo, N., 2019, JIMD Reports. Springer, Vol. 43. p. 103-109 7 p. (JIMD Reports).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  15 Citations (Scopus)

• Phytanic acid metabolism in health and disease

  Wanders, R. J. A., 2019, Principles of Nutrigenetics and Nutrigenomics: Fundamentals of Individualized Nutrition. Elsevier, p. 341-346 (Principles of Nutrigenetics and Nutrigenomics: Fundamentals of Individualized Nutrition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2018

  Een andere hielprik voor jongens dan voor meisjes?

  Engelen, M. & Kemp, S., 2018, De hielprik. Houtkooper, R. (ed.). Stichting Biowetenschappen en Maatschappij, p. -

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Popular

• Peroxisomes and their central role in metabolic interaction networks in humans

  Wanders, R. J. A., Waterham, H. R. & Ferdinandusse, S., 2018, Subcellular Biochemistry. Springer New York, Vol. 89. p. 345-365 (Subcellular Biochemistry).

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

  Open Access
  21 Citations (Scopus)
• 2017

  Peroxisomal Diseases

  Wanders, R. J. A., 2017, Reference Module in Neuroscience and Biobehavioral Psychology. Stein, J. (ed.). S.l.: Elsevier, p. 1-5

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2016

  Diamond–Blackfan Anaemia: From Genotype to Phenotype

  Paolini, N. A., MacInnes, A. W. & von Lindern, M., 2016, Encyclopedia of life sciences (eLS). Chichester: John Wiley & Sons Ltd, a0024471

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

• Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

  Wanders, R. J. A., Aubourg, P. & Poll-The, B-T., 2016, Inborn Metabolic Diseases Diagnosis and Treatment (6th Edition). Saudubray, J-M., Baumgartner, M. R. & Walter, J. (eds.). Berlin: Springer, p. 591-606

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

• Inherited Metabolic Disease in Adults; A Clinical Guide.

  Poll-The, B. T., Wanders, R. J. A. & Waterham, H. R., 2016, Peroxisomal disorders. New York: Oxford University Press, p. 395-405 10 p.

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

• Interpretation of Very-Long-Chain Fatty Acids Analysis Results

  Vaz, F. M. & Wanders, R. J. A., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 573-575

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

• Mevalonate Kinase Deficiency

  Frenkel, J. & Waterham, H. R., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 235-238

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

• NAD+ as a Pharmacological Tool to Boost Sirtuin Activity

  Houtkooper, R. H., 2016, Sirtuins. Houtkooper, R. (ed.). Amsterdam: Springer, p. 29-40 (Proteins and Cell Regulation; no. 10).

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

• Peroxisomal diseases

  Wanders, R. J. A., 2016, The Curated Reference Collection in Neuroscience and Biobehavioral Psychology. Elsevier Science Ltd, p. 869-872 (The Curated Reference Collection in Neuroscience and Biobehavioral Psychology).

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

• Peroxisomal Disorders

  Poll-The, B. T., Wanders, R. J. A. & Waterham, H. R., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 395-405

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

• Sirtuins and Aging

  Cantó, C. & Houtkooper, R. H., 2016, Sirtuins. Houtkooper, R. (ed.). Amsterdam: Springer, p. 213-227 (Proteins and Cell Regulation; no. 10).

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

  119 Citations (Scopus)

• X-linked Adrenoleukodystrophy

  van Geel, B. M., Engelen, M. & Kemp, S., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 387-393

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2015

  Branched Chain Amino Acid Oxidation Disorders

  Wanders, R. J. A., Duran, M. & Loupatty, F., 2015, Branched Chain Amino Acids in Clinical Nutrition : Volume 1. Rajendram, R., Preedy, V. R. & Patel, V. B. (eds.). New York: Springer, p. 129-143 (Nutrition and health).

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

• Dioxygenases of carnitine biosynthesis: 6-N-trimethyllysine and γ-butyrobetaine hydroxylases

  Vaz, F. M. & Van Vlies, N., 2015, 2-Oxoglutarate-Dependent Oxygenases. Hausinger, R. P. & Schofield, C. J. (eds.). 3 ed. Royal Society of Chemistry, p. 324-337 14 p. (RSC Metallobiology; vol. 2015-January, no. 3).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  2 Citations (Scopus)

• Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

  Wanders, R. J. A., 2015, Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. Milunsky, A. & Milunski, J. M. (eds.). 7 ed. Chichester: John Wiley, p. 838-850

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2014

  Molecular Genetics of X-linked Adrenoleukodystrophy

  Kemp, S., 2014, Encyclopedia of life sciences (eLS). N., N. (ed.). Chichester: John Wiley & Sons Ltd, p. a0024277

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

• Peroxisomal Diseases

  Wanders, R. J. A., 2014, Encyclopedia of the neurological sciences (2nd ed.). Aminoff, M. & Daroff, R. (eds.). S.l.: Elsevier, p. 869-872

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  1 Citation (Scopus)

• Peroxisomal Disorders

  Bwee Tien, P-T. & Wanders, R. J. A., 2014, Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Blau, N., Duran, M., Gibson, K. M. & Dionisi-Vici, C. (eds.). New York; Berlin: Springer, p. 375-397

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

• Peroxisomes in humans: metabolic functions, cross talk with other organelles, and pathophysiology of peroxisomal disorders

  Wanders, R. J. A., Ferdinandusse, S. & Waterham, H. R., 2014, Molecular machines involved in peroxisome biogenesis and maintenance. Brocard, C. & Hartig, A. (eds.). Wien: Springer, p. 37-60

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2013

  Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity

  Gross, E. & van Kuilenburg, A. B. P., 2013, Handbook of Therapeutic Biomarkers in Cancer. Yang, S. X. & Dancey, J. E. (eds.). S.l.: Pan Standford Publishing Pte., p. 337-351

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

• Purine and pyrimidine metabolism

  Kamatani, N., Jinnah, H. A., Hennekam, R. C. M. & van Kuilenburg, A. B. P., 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Rimoin, D., Pyeritz, R. & Korf, B. (eds.). S.l.: Elsevier Science Publishing, p. 1-38 38 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
  3 Citations (Scopus)
• 2012

  Disorders of Cholesterol Synthesis

  Waterham, H. R. & Clayton, P. T., 2012, Inborn Metabolic Diseases. Diagnosis and Treatment [5th edition]. Saudubray, J-M., van den Berghe, G. & Walter, J. H. (eds.). Berlin Heidelberg New York: Springer-Verlag, p. 461-471

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

  2 Citations (Scopus)

• Metabolomics using UPLC/HPLC-Tandem Mass Spectrometry in diagnosis and research of inherited metabolic diseases

  Kulik, W. & van Kuilenburg, A. B. P., 2012, Analytical Techniques for Clinical Chemistry : Methods and Applications. Caroli, S. & Zaray, G. (eds.). Hoboken, NJ: John Wiley & Sons, Inc, p. 535-554

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

• Peroxisomal Disorders [Chapter 41]

  Poll-The, B. T., Aubourg, P. & Wanders, R. J. A., 2012, Inborn Metabolic Diseases. Diagnosis and Treatment [5th edition]. Saudubray, J-M., van den Berghe, G. & Walter, J. H. (eds.). Berlin Heidelberg New York: Springer-Verlag, p. 591-605

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

• Platelet-Derived Microparticles

  Nieuwland, R., van der Pol, E., Gardiner, C. & Sturk, A., 1 Jan 2012, Platelets, Third Edition. Elsevier, p. 453-467 (Platelets, Third Edition).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2010

  Enzymes, metabolic pathways, flux control analysis and the enzymology of specific groups of inherited metabolic diseases

  Wanders, R. J. A., Poorthuis, B. J. H. M. & Rodenburg, R. J. T., 2010, Inherited Metabolic Diseases. Hoffmann, G. F., Zschocke, J. & Nyhan, W. L. (eds.). Springer-Verlag Berlin Heidelberg: Springer Heidelberg Dordrecht London New York, p. 283-303

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

  2 Citations (Scopus)

• Prenatal diagnosis of the peroxisomal and mitochondrial fatty acid oxidation deficiencies

  Wanders, R. J. A., 2010, Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Milunsky, A. & Milunski, J. M. (eds.). Boston: Wiley-Blackwell, p. 489-494

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

• Purine and Pyrimidine metabolism disturbances: worth looking for?

  van Kuilenburg, A. & Hennekam, R. C. M., 2010, EMG Workshop Proceedings 2010. Tavares de Almeida, I. & Duran, M. (eds.). Lissabon: Milupa Metabolics GmbH, 61361, Friedrichsdorf, Germany, p. 11-16

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
• 2009

  Beta-Alanine-alpha-Ketoglutarate Aminotransferase Deficiency

  van Kuilenburg, A. B. P. & van Gennip, A. H., 2009, Encyclopedia of molecular mechanisms of disease. Lang, F. (ed.). Berlin; Heidelberg: Springer, p. 53-54

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

• Beta-Aminoisobutyrate-Pyruvate Aminotransferase Deficiency

  van Kuilenburg, A. B. P. & van Gennip, A. H., 2009, Encyclopedia of molecular mechanisms of disease. Lang, F. (ed.). Berlin; Heidelberg: Springer, p. 71-72

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

• Beta-Ureidopropionase Deficiency

  van Kuilenburg, A. B. P. & van Gennip, A. H., 2009, Encyclopedia of molecular mechanisms of disease. Lang, F. (ed.). Berlin; Heidelberg: Springer, p. 2141-2141

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

• Bile acid abnormalities in peroxisomal disorders

  Ferdinandusse, S. & Wanders, R. J. A., 2009, Bile acid biology and therapeutic actions. Stiehl, A., Trauner, M., Beuers, U. & Keppler, D. (eds.). Dordrecht: Springer, p. 243-252

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

• Dihydropyrimidinase Deficiency

  van Kuilenburg, A. B. P. & van Gennip, A. H., 2009, Encyclopedia of molecular mechanisms of disease. Lang, F. (ed.). Berlin; Heidelberg: Springer, p. 533-534

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