Publications by authors named "Margot F Mulder"

16Publications

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

J Inherit Metab Dis 2019 09 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12102
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http://dx.doi.org/10.1002/jimd.12102DOI Listing
September 2019

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

J Inherit Metab Dis 2019 01;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

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http://dx.doi.org/10.1002/jimd.12037DOI Listing
January 2019

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

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9737-0DOI Listing
March 2015

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

Pediatr Nephrol 2012 Oct 17;27(10):1985-7. Epub 2012 Jun 17.

Department of Pediatrics, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/s00467-012-2201
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http://link.springer.com/10.1007/s00467-012-2201-1
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http://dx.doi.org/10.1007/s00467-012-2201-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422450PMC
October 2012

Nephrological abnormalities in patients with transaldolase deficiency.

Nephrol Dial Transplant 2012 Aug 17;27(8):3224-7. Epub 2012 Apr 17.

Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfs061DOI Listing
August 2012

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.

J Inherit Metab Dis 2010 Dec 24;33 Suppl 3:S401-7. Epub 2010 Sep 24.

Department of Neonatology, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9198-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757261PMC
December 2010

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

Eur J Med Genet 2009 Nov-Dec;52(6):417-20. Epub 2009 Jul 10.

VU University Medical Center, Department of Neonatology, Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900076
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http://dx.doi.org/10.1016/j.ejmg.2009.07.002DOI Listing
February 2010