Publications by authors named "Mirjam Langeveld"

43Publications

Neonatal carnitine concentrations in relation to gestational age and weight.

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.

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.

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?

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

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

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

Determinants of cerebral radiological progression in Fabry disease.

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.

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.

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

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

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.

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.

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

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

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

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.

Sci Rep 2019 01 17;9(1):188. Epub 2019 Jan 17.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers location Academic Medical Center, Amsterdam, The Netherlands.

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January 2019

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review.

Mol Genet Metab 2018 11 5;125(3):205-216. Epub 2018 Sep 5.

Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, the Netherlands. Electronic address:

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November 2018