Margreet A E M Wagenmakers

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.

Authors:

Debby Wensink Margreet A E M Wagenmakers Janneke G Langendonk

Expert Rev Clin Pharmacol 2021 Jan 28. Epub 2021 Jan 28.

Porphyria Centre Rotterdam, Centre for lysosomal and metabolic disease, Department of Internal Medicine, Erasmus University Medical Centre Rotterdam , the Netherlands.

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January 2021

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Authors:

Michiel Bongaerts Ramon Bonte Serwet Demirdas Edwin H Jacobs Esmee Oussoren Ans T van der Ploeg Margreet A E M Wagenmakers Robert M W Hofstra Henk J Blom Marcel J T Reinders George J G Ruijter

Metabolites 2020 Dec 25;11(1). Epub 2020 Dec 25.

Department of Clinical Genetics, Erasmus Medical Centre, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.

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December 2020

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.

Authors:

Esmee Oussoren Margreet A E M Wagenmakers Bianca Link Jan C van der Meijden W W M Pim Pijnappel George J G Ruijter Mirjam Langeveld Ans T van der Ploeg

Bone 2021 Feb 29;143:115729. Epub 2020 Oct 29.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address:

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February 2021

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

Authors:

Debby Wensink Margreet A E M Wagenmakers Jasmin Barman-Aksözen Edith C H Friesema J H Paul Wilson Joost van Rosmalen Janneke G Langendonk

JAMA Dermatol 2020 05;156(5):570-575

Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

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May 2020

Decreased Aerobic Exercise Capacity After Long-Term Remission From Cushing Syndrome: Exploration of Mechanisms.

Authors:

Sean H P P Roerink Matthew S Cocks Margreet A E M Wagenmakers Raffaella P Rodighiero Juliette A Strauss Sam O Shepherd Theo S Plantinga Dick H J Thijssen Maria T E Hopman Alberto M Pereira Jan W Smit Anton J M Wagenmakers Romana T Netea-Maier Ad R M M Hermus

J Clin Endocrinol Metab 2020 04;105(4)

Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands.

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April 2020

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Authors:

Stephanie C M Nijmeijer L Ingeborg van den Born Anneke J A Kievit Karolina M Stepien Janneke Langendonk Jan Pieter Marchal Susanne Roosing Frits A Wijburg Margreet A E M Wagenmakers

Orphanet J Rare Dis 2019 11 12;14(1):249. Epub 2019 Nov 12.

Erasmus MC, Center for Lysosomal and Metabolic disease, Department of Internal Medicine, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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November 2019

[Reduced consciousness levels caused by hyperammonaemia].

Authors:

Lisa M Driessen Bastiaan C du Pré Stephanie C E Schuit Janneke G Langendonk Adrienne A M Zandbergen Margreet A E M Wagenmakers

Ned Tijdschr Geneeskd 2019 10 10;163. Epub 2019 Oct 10.

Erasmus MC, afd. Interne Geneeskunde, Rotterdam.

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October 2019

Bone mineral density is within normal range in most adult phenylketonuria patients.

Authors:

Charlotte M A Lubout Francisco Arrieta Blanco Katarzyna Bartosiewicz François Feillet Maria Gizewska Carla Hollak Johanna H van der Lee François Maillot Karolina M Stepien Margreet A E M Wagenmakers Mendy M Welsink-Karssies Francjan J van Spronsen Annet M Bosch

J Inherit Metab Dis 2020 03 6;43(2):251-258. Epub 2020 Feb 6.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC - Location AMC, Amsterdam, The Netherlands.

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March 2020

Correction to: Medical and financial burden of acute intermittent porphyria.

Authors:

Rochus A Neeleman Margreet A E M Wagenmakers Rita H Koole-Lesuis G Sophie Mijnhout J H Paul Wilson Edith C H Friesema Janneke G Langendonk

J Inherit Metab Dis 2018 Nov;41(6):1297-1298

Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands.

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November 2018

Medical and financial burden of acute intermittent porphyria.

Authors:

Rochus A Neeleman Margreet A E M Wagenmakers Rita H Koole-Lesuis G Sophie Mijnhout J H Paul Wilson Edith C H Friesema Janneke G Langendonk

J Inherit Metab Dis 2018 09 19;41(5):809-817. Epub 2018 Apr 19.

Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.

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September 2018