Mirjam Langeveld

Neonatal carnitine concentrations in relation to gestational age and weight.

Authors:

Loek L Crefcoeur Monique G M de Sain-van der Velden Sacha Ferdinandusse Mirjam Langeveld Rose Maase Frédéric M Vaz Gepke Visser Ronald J A Wanders Frits A Wijburg Rendelien K Verschoof-Puite Peter C J I Schielen

JIMD Rep 2020 Nov 8;56(1):95-104. Epub 2020 Sep 8.

Reference Laboratory for Neonatal Screening, Centre for Health Protection Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands.

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November 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

Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.

Authors:

Suzan J G Knottnerus Dewi van Harskamp Henk Schierbeek Jeannette C Bleeker Loek L Crefcoeur Sacha Ferdinandusse Johannes B van Goudoever Riekelt H Houtkooper Lodewijk IJlst Mirjam Langeveld Ronald J A Wanders Frédéric M Vaz Frits A Wijburg Gepke Visser

Clin Nutr 2020 Sep 4. Epub 2020 Sep 4.

Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, 1105, AZ, Amsterdam, the Netherlands; Section Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands. Electronic address:

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September 2020

Registries for orphan drugs: generating evidence or marketing tools?

Authors:

Carla E M Hollak Sandra Sirrs Sibren van den Berg Vincent van der Wel Mirjam Langeveld Hanka Dekker Robin Lachmann Saco J de Visser

Orphanet J Rare Dis 2020 09 3;15(1):235. Epub 2020 Sep 3.

Platform Medicine for Society at Amsterdam University Medical Centers, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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September 2020

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.

Authors:

Sanne J van der Veen Wytze J Vlietstra Laura van Dussen André B P van Kuilenburg Marcel G W Dijkgraaf Malte Lenders Eva Brand Christoph Wanner Derralynn Hughes Perry M Elliott Carla E M Hollak Mirjam Langeveld

Int J Mol Sci 2020 Aug 12;21(16). Epub 2020 Aug 12.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers (AUMC), University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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August 2020

Multidisciplinary approach in medicine: successful pregnancy in a patient with hyperinsulinism/hyperammonaemia (HI/HA) syndrome.

Authors:

Bernadette J M Benner Mijke Bazelmans Hidde Huidekoper Mirjam Langeveld Janneke Langendonk Sam Schoenmakers

BMJ Case Rep 2020 Aug 3;13(8). Epub 2020 Aug 3.

Obstetric Department, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands

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August 2020

Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.

Authors:

Simon Körver Gert J Geurtsen Carla E M Hollak Ivo N van Schaik Maria G F Longo Marjana R Lima Marcel G W Dijkgraaf Mirjam Langeveld

J Inherit Metab Dis 2020 Sep 25;43(5):1070-1081. Epub 2020 Jun 25.

Department of Endocrinology and Metabolism, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, The Netherlands.

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September 2020

Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.

Authors:

Suzan J G Knottnerus Jeannette C Bleeker Sacha Ferdinandusse Riekelt H Houtkooper Mirjam Langeveld Aart J Nederveen Gustav J Strijkers Gepke Visser Ronald J A Wanders Frits A Wijburg S Matthijs Boekholdt Adrianus J Bakermans

J Inherit Metab Dis 2020 Sep 5;43(5):969-980. Epub 2020 Jun 5.

Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

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September 2020

Determinants of cerebral radiological progression in Fabry disease.

Authors:

Simon Körver Maria G F Longo Marjana R Lima Carla E M Hollak Mohamed El Sayed Ivo N van Schaik Leonardo Vedolin Marcel G W Dijkgraaf Mirjam Langeveld

J Neurol Neurosurg Psychiatry 2020 07 21;91(7):756-763. Epub 2020 Apr 21.

Endocrinology and Metabolism, Amsterdam UMC-Locatie AMC, Amsterdam, The Netherlands

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July 2020

Developments in the treatment of Fabry disease.

Authors:

Sanne J van der Veen Carla E M Hollak André B P van Kuilenburg Mirjam Langeveld

J Inherit Metab Dis 2020 Sep 2;43(5):908-921. Epub 2020 Mar 2.

Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, AZ, Amsterdam, The Netherlands.

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September 2020

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.

Authors:

Simon Körver Gert J Geurtsen Carla E M Hollak Ivo N van Schaik Maria G F Longo Marjana R Lima Leonardo Vedolin Marcel G W Dijkgraaf Mirjam Langeveld

Orphanet J Rare Dis 2020 01 28;15(1):28. Epub 2020 Jan 28.

Department of Endocrinology and Metabolism, Amsterdam UMC, location AMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

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January 2020

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2020 07 5;43(4):787-799. Epub 2020 Feb 5.

Neuroimaging Center, Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, Groningen, The Netherlands.

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July 2020

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?

Authors:

Hanneke A Haijes Femke Molema Mirjam Langeveld Mirian C Janssen Annet M Bosch Francjan van Spronsen Margot F Mulder Nanda M Verhoeven-Duif Judith J M Jans Ans T van der Ploeg Margreet A Wagenmakers M Estela Rubio-Gozalbo Martijn C G J Brouwers Maaike C de Vries Janneke G Langendonk Monique Williams Peter M van Hasselt

J Inherit Metab Dis 2020 05 22;43(3):424-437. Epub 2019 Dec 22.

Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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May 2020

Education and training in adult metabolic medicine: Results of an international survey.

Authors:

Annalisa Sechi Elisa Fabbro Mirjam Langeveld Annarita Tullio Robin Lachmann Fanny Mochel

JIMD Rep 2019 Sep 21;49(1):63-69. Epub 2019 Jun 21.

Reference Center for Neurometabolic Diseases La Pitié-Salpêtriere University Hospital Paris France.

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September 2019

The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease.

Authors:

Simon Körver Sara A J van de Schraaf Gert J Geurtsen Carla E M Hollak Ivo N van Schaik Mirjam Langeveld

JIMD Rep 2019 Jul 20;48(1):53-59. Epub 2019 May 20.

Department of Endocrinology and Metabolism Amsterdam UMC, Location AMC, University of Amsterdam Amsterdam The Netherlands.

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July 2019

Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data.

Authors:

Simon Körver Ulla Feldt-Rasmussen Einar Svarstad Ilkka Kantola Mirjam Langeveld

Clin Pharmacol Ther 2019 11 12;106(5):925-926. Epub 2019 Jul 12.

Department of Endocrinology and Metabolism, Amsterdam UMC, location AMC, University of Amsterdam, Amsterdam, The Netherlands.

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November 2019

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

J Inherit Metab Dis 2019 05 8;42(3):414-423. Epub 2019 Apr 8.

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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May 2019

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Authors:

Fady Hannah-Shmouni Constantine A Stratakis Annalisa Sechi Mirjam Langeveld Tarekegn G Hiwot Michel C Tchan Fanny Mochel Larry D Lynd Sandra Sirrs

Lancet Diabetes Endocrinol 2019 02;7(2):82-84

Division of Endocrinology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.

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February 2019