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

  Barth syndrome and the many fascinating aspects of cardiolipin

  Vaz, F. M., Wanders, R. J. A. & Vernon, H., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 1-2 2 p.

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

  Open Access

• NAD+ to assess health in aging humans

  Janssens, G. E., Houtkooper, R. H. & Hoeks, J., 2022, In: Aging. 14, 15, p. 5962-5963 2 p.

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

  Open Access
  1 Citation (Scopus)
• 2018

  Fat up to BAT

  Houtkooper, R., 2018, In: Science Translational Medicine. 10, 448, 1972.

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

• Preface - Animal models for aging

  Houtkooper, R. H., 2018, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1864, 9, p. 2679

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

  Ketones and inborn errors of metabolism: old friends revisited

  Wüst, R. C. I., Visser, G., Wanders, R. J. A. & Houtkooper, R. H., Jan 2017, In: Journal of Inherited Metabolic Disease. 40, 1, p. 3-4 2 p.

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

  Open Access
  4 Citations (Scopus)
• 2016

  Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV) Deutlich erhöhte Chitotriosidase Aktivität bei einem Kind mit kongenitalem Morbus Anderson (Glykogenspeicherkrankung Typ IV)

  Schänzer, A., Faas, D., Rust, S., Podskarbi, T., van Kuilenburg, A. B. P., Scarpa, M., Kunze, A., Marquardt, T. & Hahn, A., 2016, In: Klinische Padiatrie. 228, 5, p. 277-279

  Research output: Contribution to journal › Editorial › Academic › peer-review
  2 Citations (Scopus)
• 2015

  Clinical utility gene card for: Zellweger syndrome spectrum

  Rosewich, H., Waterham, H., Poll-The, B. T., Ohlenbusch, A. & Gärtner, J., 2015, In: European journal of human genetics. 23, 8, p. E1-E4

  Research output: Contribution to journal › Editorial › Academic › peer-review
  6 Citations (Scopus)

• Complex lipids

  Saudubray, J-M., Baumgartner, M. R. & Wanders, R., 2015, In: Journal of Inherited Metabolic Disease. 38, 1, p. 1

  Research output: Contribution to journal › Editorial › Academic › peer-review
  3 Citations (Scopus)
• 2014

  Mitochondrial fission: firing up mitochondria in brown adipose tissue

  Gao, A. W. & Houtkooper, R. H., 2014, In: EMBO Journal. 33, 5, p. 401-402

  Research output: Contribution to journal › Editorial › Academic › peer-review
  14 Citations (Scopus)

• The two-faced progeria gene and its implications in aging and metabolism

  Chatzispyrou, I. A. & Houtkooper, R. H., 2014, In: EMBO reports. 15, 5, p. 470-471

  Research output: Contribution to journal › Editorial › Academic › peer-review
• 2012

  Clinical utility gene card for: Adrenoleukodystrophy

  Krasemann, E., Kemp, S. & Gal, A., 2012, In: European journal of human genetics. 20, 3, p. Gene card 1

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

• Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

  Huijgen, R., Stork, A. D. M., Defesche, J. C., Peter, J., Alonso, R., Cuevas, A., Kastelein, J. J. P., Duran, M. & Stroes, E. S. G., 2012, In: Clinical genetics. 81, 1, p. 24-28

  Research output: Contribution to journal › Editorial › Academic › peer-review
  14 Citations (Scopus)

• Metabolic functions and biogenesis of peroxisomes in health and disease

  Waterham, H. R. & Wanders, R. J. A., 2012, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1822, 9, p. 1325

  Research output: Contribution to journal › Editorial › Academic › peer-review
  10 Citations (Scopus)

• Newborn screening for metabolic disorders: how are we doing, and where are we going?

  Bennett, M. J., Rinaldo, P., Wilcken, B., Pass, K. A., Watson, M. S. & Wanders, R. J. A., 2012, In: Clinical Chemistry. 58, 2, p. 324-331

  Research output: Contribution to journal › Editorial › Academic › peer-review
  10 Citations (Scopus)
• 2010

  Obesity: New life for antidiabetic drugs

  Houtkooper, R. H. & Auwerx, J., 2010, In: NATURE. 466, 7305, p. 443-444

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

• RELAPSING RHABDOMYOLYSIS DUE TO PEROXISOMAL alpha-METHYLACYL-COA RACEMASE DEFICIENCY

  Kapina, V., Sedel, F., Truffert, A., Horvath, J., Wanders, R. J. A., Waterham, H. R. & Picard, F., 2010, In: Neurology. 75, 14, p. 1300-1302

  Research output: Contribution to journal › Editorial › Academic › peer-review
  21 Citations (Scopus)
• 2008

  Will cyclopentenyl cytosine (CPEC) ever have a future in the clinic?

  van Bree, C. & van Kuilenburg, A. B. P., 2008, In: Leukemia research. 32, 2, p. 201-202

  Research output: Contribution to journal › Editorial › Academic › peer-review
  3 Citations (Scopus)
• 2006

  Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?

  Köppel, S., Gottschalk, J., Hoffmann, G. F., Waterham, H. R., Blobel, H. & Kölker, S., 2006, In: Neurology. 67, 8, p. 1519

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

• Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question

  van Kuilenburg, A. B. P., 2006, In: Cancer Investigation. 24, 2, p. 215-217

  Research output: Contribution to journal › Editorial › Academic › peer-review
  31 Citations (Scopus)
• 2004

  Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency

  Clarke, C. E., Alger, S., Preece, M. A., Burdon, M. A., Chavda, S., Denis, S., Ferdinandusse, S. & Wanders, R. J. A., 2004, In: Neurology. 63, 1, p. 188-189

  Research output: Contribution to journal › Editorial › Academic › peer-review
  37 Citations (Scopus)
• 2003

  Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

  Rubio-Gozalbo, M. E., Vos, P., Forget, P. P., van der Meer, S. B., Wanders, R. J. A., Waterham, H. R. & Bakker, J. A., 2003, In: Acta paediatrica (Oslo, Norway. 92, 4, p. 501-504

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

  19 Citations (Scopus)