Machtelt Bouwman

Research output

Research output per year 2010 2010 2012 2013

• 11 Article
• 1 Comment/Letter to the editor
• 1 Phd-Thesis - Research and graduation internal

Research output per year

Research output per year

Search results

• 2013

  Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

  Bouwman, M. G., de Ru, M. H., Linthorst, G. E., Hollak, C. E. M., Wijburg, F. A. & van Zwieten, M. C. B., 2013, In: Molecular Genetics and Metabolism. 109, 2, p. 201-207

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

• Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

  Rombach, S. M., Smid, B. E., Bouwman, M. G., Linthorst, G. E., Dijkgraaf, M. G. W. & Hollak, C. E. M., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 47

  Research output: Contribution to journal › Article › Academic › peer-review
  136 Citations (Scopus)
• 2012

  Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

  de Ru, M. H., Bouwman, M. G., Wijburg, F. A. & van Zwieten, M. C. B., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 501-507

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

• Prevalence of symptoms in female Fabry disease patients: a case-control survey

  Bouwman, M. G., Rombach, S. M., Schenk, E., Sweeb, A., Wijburg, F. A., Hollak, C. E. M. & Linthorst, G. E., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 891-898

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)
• 2011

  Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life

  Bouwman, M. G., Maurice-Stam, H., Linthorst, G. E., Hollak, C. E. M., Wijburg, F. A. & Grootenhuis, M. A., 2011, In: Molecular Genetics and Metabolism. 104, 3, p. 308-313

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

  Analysis of Placental Tissue in Fabry Disease With and Without Enzyme Replacement Therapy

  Bouwman, M. G., Hollak, C. E. M., van den Bergh Weerman, M. A., Wijburg, F. A. & Linthorst, G. E., 2010, In: Placenta. 31, 4, p. 344-346

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

• 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

  Bouwman, M. G., Teunissen, Q. G. A., Wijburg, F. A. & Linthorst, G. E., 2010, In: Archives of disease in childhood. 95, 8, p. 642-U96

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

  Open Access
  41 Citations (Scopus)

• Hevige pijnklachten aan handen en voeten bij koorts en huidafwijkingen: de ziekte van Fabry

  Bouwman, M. G., Rombach, S. M., Linthorst, G. E., Hollak, C. E. M., Aerts, J. M. F. G. & Wijburg, F. A., 2010, In: Tijdschrift voor kindergeneeskunde. 78, 2, p. 69-73

  Research output: Contribution to journal › Article › Professional

• Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate

  Tøndel, C., Ramaswami, U., Aakre, K. M., Wijburg, F., Bouwman, M. & Svarstad, E., 2010, In: Nephrology, dialysis, transplantation. 25, 5, p. 1507-1513

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

• Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

  Rombach, S. M., Dekker, N. N., Bouwman, M. G., Linthorst, G. E., Zwinderman, A. H., Wijburg, F. A., Kuiper, S., van den Bergh Weerman, M. A., Groener, J. E. M., Poorthuis, B. J., Hollak, C. E. M. & Aerts, J. M. F. G., 2010, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1802, 9, p. 741-748

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

• Screening for Fabry disease in high-risk populations: a systematic review

  Linthorst, G. E., Bouwman, M. G., Wijburg, F. A., Aerts, J. M. F. G., Poorthuis, B. J. H. M. & Hollak, C. E. M., 2010, In: Journal of medical genetics. 47, 4, p. 217-222

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

  Open Access
  135 Citations (Scopus)