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Mirjam M. C. Wamelink

VU University Medical Center
VU University Amsterdam

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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.

2021 Brain
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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

2020
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The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications

2020 Clinical Chemistry and Laboratory Medicine
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Confirmation of a rare genetic leukoencephalopathy due to a novel Bi-allelic variant in RPIA

2019 European Journal of Medical Genetics
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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients

2018 Journal of Inherited Metabolic Disease
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Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

2017
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Disorders of Glycolysis and the Pentose Phosphate Pathway

2016
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

2016 American Journal of Human Genetics
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First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

2015 Journal of Inherited Metabolic Disease
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Clinical and molecular characteristics of two transaldolase-deficient patients

2014 European Journal of Pediatrics
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