Margaretha Mulder

DR.

20092019
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Research Output 2009 2019

2019

Acid sphingomyelinase: No potential as a biomarker for multiple sclerosis

Leurs, C. E., Lopes Pinheiro, M. A., Wierts, L., den Hoedt, S., Mulder, M. T., Eijlers, A. J. C., Schoonheim, M. M., Balk, L. J., Uitdehaag, B. M. J., Killestein, J. & de Vries, H. E., 1 Feb 2019, In : Multiple Sclerosis and Related Disorders. 28, p. 44-49 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Astrocytic ceramide as possible indicator of neuroinflammation 11 Medical and Health Sciences 1109 Neurosciences

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

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., Tulder, M. V., van Wegen, E. E. H. & Kwakkel, G., 2019, In : PLoS ONE. 14, 4, e0214241.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 159-168

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 2019, In : Archives of Physical Medicine and Rehabilitation.

Research output: Contribution to journalArticleAcademicpeer-review

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., 2019, In : European Journal of Pediatrics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

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., 6 Jun 2018, In : Genetics in Medicine. p. 1-12

Research output: Contribution to journalArticleAcademicpeer-review

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., 2015, In : Journal of Inherited Metabolic Disease. 38, 2, p. 323-331

Research output: Contribution to journalArticleAcademicpeer-review

2014

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

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 journalArticleAcademicpeer-review

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, p. S49-S56

Research output: Contribution to journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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, A., Lefeber, D. & Poorthuis, B. J. H. M., 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 526-533

Research output: Contribution to journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

22 Downloads (Pure)

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, 30.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
2011
2009

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

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

Research output: Contribution to journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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

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

Research output: Contribution to journalArticleAcademicpeer-review