Margaretha Mulder

Research output

Research output per year 2007 2019 2022

• 29 Article
• 1 Erratum/Corrigendum

Research output per year

Research output per year

Search results

• 2022

  Lupus anticoagulant associates with thrombosis in patients with COVID-19 admitted to intensive care units: A retrospective cohort study

  the Dutch COVID & Thrombosis Coalition (DCTC), 1 Aug 2022, In: Research and practice in thrombosis and haemostasis. 6, 6, e12809.

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

  Open Access
  5 Citations (Scopus)
• 2021

  High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

  Molema, F., Haijes, H. A., Janssen, M. C., Bosch, A. M., van Spronsen, F. J., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Fuchs, S., Langendonk, J. G., Rizopoulos, D., van Hasselt, P. M. & Williams, M., May 2021, In: Clinical Nutrition. 40, 5, p. 3622-3630 9 p.

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

  Open Access
  9 Citations (Scopus)
• 2020

  Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

  Stroek, K., Boelen, A., Bouva, M. J., De Sain-van der Velden, M., Schielen, P. C. J. I., Maase, R., Engel, H., Jakobs, B., Kluijtmans, L. A. J., Mulder, M. F., Rubio-Gozalbo, M. E., van Spronsen, F. J., Visser, G., de Vries, M. C., Williams, M., Heijboer, A. C., Kemper, E. A. & Bosch, A. M., 1 Jan 2020, In: JIMD reports. 54, 1, p. 68-78 11 p.

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

  Open Access
  13 Citations (Scopus)

• Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

  Haijes, H. A., Molema, F., Langeveld, M., Janssen, M. C., Bosch, A. M., van Spronsen, F., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Langendonk, J. G., Williams, M. & van Hasselt, P. M., 1 May 2020, In: Journal of Inherited Metabolic Disease. 43, 3, p. 424-437 14 p.

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

  Open Access
  18 Citations (Scopus)
• 2019

  Aminoacyl-tRNA synthetase deficiencies in search of common themes

  Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 1 Feb 2019, In: Genetics in medicine. 21, 2, p. 319-330

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

• A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

  Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sept 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

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

  Open Access
  18 Citations (Scopus)

• Astrocytic ceramide as possible indicator of neuroinflammation

  de Wit, N. M., den Hoedt, S., Martinez-Martinez, P., Rozemuller, A. J., Mulder, M. T. & de Vries, H. E., 25 Feb 2019, In: Journal of neuroinflammation. 16, 1, 48.

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

  Open Access
  48 Citations (Scopus)

• Caregiver-mediated exercises with e-health support for early supported discharge after stroke (CARE4STROKE): A randomized controlled trial

  Vloothuis, J. D. M., Mulder, M., Nijland, R. H. M., Goedhart, Q. S., Konijnenbelt, M., Mulder, H., Hertogh, C. M. P. M., van Tulder, M., Van Wegen, E. E. H. & Kwakkel, G., 8 Apr 2019, In: PLOS ONE. 14, 4, e0214241.

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

  Open Access
  49 Citations (Scopus)

• Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

  Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 1 Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

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

  Open Access
  23 Citations (Scopus)

• Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

  Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A., & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

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

  Open Access
  33 Citations (Scopus)

• Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia: Evidence from the EYE-RISK and European Eye Epidemiology Consortia

  European Eye Epidemiology Consortium & EYE-RISK Consortium, 1 Mar 2019, In: Ophthalmology. 126, 3, p. 393-406 14 p.

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

  Open Access
  81 Citations (Scopus)

• Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

  Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 1-10 10 p.

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

  Open Access
  16 Citations (Scopus)

• Prospectively Classifying Community Walkers After Stroke: Who Are They?

  Mulder, M., Nijland, R. H., van de Port, I. G., van Wegen, E. E. & Kwakkel, G., 1 Nov 2019, In: Archives of physical medicine and rehabilitation. 100, 11, p. 2113-2118 6 p.

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

• The etiological evaluation of sensorineural hearing loss in children

  van Beeck Calkoen, E. A., Engel, M. S. D., van de Kamp, J. M., Yntema, H. G., Goverts, S. T., Mulder, M. F., Merkus, P. & Hensen, E. F., 1 Aug 2019, In: European journal of pediatrics. 178, 8, p. 1195-1205 11 p.

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

  Open Access
  58 Citations (Scopus)
• 2018

  Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss

  van Beeck Calkoen, E. A., Merkus, P., Goverts, S. T., van de Kamp, J. M., Mulder, M. F., Sanchez Aliaga, E. & Hensen, E. F., May 2018, In: International Journal of Pediatric Otorhinolaryngology. 108, p. 180-185 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  16 Citations (Scopus)
• 2017

  High prevalence of abnormalities on CT and MR imaging in children with unilateral sensorineural hearing loss irrespective of age or degree of hearing loss

  van Beeck Calkoen, E. A., Sanchez Aliaga, E., Merkus, P., Smit, C. F., van de Kamp, J. M., Mulder, M. F., Goverts, S. T. & Hensen, E. F., Jun 2017, In: International Journal of Pediatric Otorhinolaryngology. 97, p. 185-191 7 p.

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

  Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

  Brands, M. M. G., Gungor, D., van den Hout, J. M. P., Karstens, F. P. J., Oussoren, E., Plug, I., Boelens, J. J., van Hasselt, P. M., Hollak, C. E. M., Mulder, M. F., Gozalbo, E. R., Smeitink, J. A., Smit, G. P. A., Wijburg, F. A., Meutgeert, H., van der Ploeg, A. T. & Güngör, D., 2015, In: Journal of Inherited Metabolic Disease. 38, 2, p. 323-331

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

  Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

  de Ruijter, J., Broere, L., Mulder, M. F., van der Ploeg, A. T., Rubio-Gozalbo, M. E., Wortmann, S. B., Visser, G. & Wijburg, F. A., 2014, In: Journal of Inherited Metabolic Disease. 37, 3, p. 447-454

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)
• 2013

  Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study

  Demirdas, S., Maurice-Stam, H., Boelen, C. C. A., Hofstede, F. C., Janssen, M. C. H., Langendonk, J. G., Mulder, M. F., Rubio-Gozalbo, M. E., van Spronsen, F. J., de Vries, M., Grootenhuis, M. A. & Bosch, A. M., 2013, In: Molecular Genetics and Metabolism. 110, Suppl, p. S49-S56

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

  A case of tubulointerstitial nephritis in a patient with an influenza H1N1 infection

  Ashtiani, N., Mulder, M. F., van Wijk, J. A. E. & Bokenkamp, A., 2012, In: Pediatric Nephrology. 27, 10, p. 1985-1987

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

• Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

  Hollak, C. E. M., de Sonnaville, E. S. V., Cassiman, D., Linthorst, G. E., Groener, J. E., Morava, E., Wevers, R. A., Mannens, M., Aerts, J. M. F. G., Meersseman, W., Akkerman, E., Niezen-Koning, K. E., Mulder, M. F., Visser, G., Wijburg, F. A., Lefeber, D. & Poorthuis, B. J. H. M., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 526-533

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

• Nephrological abnormalities in patients with transaldolase deficiency

  Loeffen, Y. G. T., Biebuyck, N., Wamelink, M. M. C., Jakobs, C. A. J. M., Mulder, M. F., Tylki-Szymanska, A., Fung, C. W., Valayannopoulos, V. & Bokenkamp, A., 2012, In: Nephrology, dialysis, transplantation. 27, 8, p. 3224-3227

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

• Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

  Touw, C. M. L., Smit, G. P. A., de Vries, M., de Klerk, J. B. C., Bosch, A. M., Visser, G., Mulder, M. F., Rubio-Gozalbo, M. E., Elvers, B., Niezen-Koning, K. E., Wanders, R. J. A., Waterham, H. R., Reijngoud, D-J. & Derks, T. G. J., 2012, In: Orphanet Journal of Rare Diseases. 7, 1, p. 30 30.

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

  Open Access
  25 Citations (Scopus)
• 2011

  4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency

  Wamelink, M. M. C., Roos, B., Jansen, E. E. W., Mulder, M. F., Gibson, K. M. & Jakobs, C. A. J. M., 2011, In: Molecular Genetics and Metabolism. 102, 2, p. 216-217

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)
• 2009

  Dutch orthopedic thromboprophylaxis: a 5-year follow-up survey

  Ettema, H. B., Mulder, M. C., Nurmohamed, M. T., Büller, H. R. & Verheyen, C. C. P. M., 2009, In: Acta Orthopaedica. 80, 1, p. 109-112

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

  Open Access
  16 Citations (Scopus)

• Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis

  Vermeulen, M. J., de Haas, V., Mulder, M. F., Flohil, C. C., Fetter, W. P. F. & van de Kamp, J. M., 2009, In: European journal of medical genetics. 52, 6, p. 417-420

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

• Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

  Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S. & Hennekam, R. C., 2009, In: Nature Genetics. 41, 12, p. 1272-1274 3 p.

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

• Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

  van Spronsen, F. J., van Rijn, M. M., Dorgelo, B., Hoeksma, M., Bosch, A. M., Mulder, M. F., de Klerk, J. B. C., de Koning, T., Rubio-Gozalbo, M. E., de Vries, M. & Verkerk, P. H., 2009, In: Journal of Inherited Metabolic Disease. 32, 1, p. 27-31

  Research output: Contribution to journal › Article › Academic › peer-review
  37 Citations (Scopus)
• 2007

  Transiënte hyperammoniëmie van de neonaat

  Translated title of the contribution: Transient hyperammonemia in a neoanateKnol, F. R., Van Weissenbruch, M. M., Mulder, M. F., Bökenkamp, A. & Fetter, W. P. F., Dec 2007, In: Tijdschrift voor kindergeneeskunde. 75, 6, p. 243-246 4 p.

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