https://doi.org/10.1111/brv.12140
M
Mirjam M. C. Wamelink
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Mirjam M. C. Wamelink is an academic researcher from Amsterdam Neuroscience. The author has contributed to research in topics: Biomedical Research and Pathophysiology & Neonatal Health and Biochemistry & Metabolism and Genetic Disorders. The author has an h-index of 29, co-authored 69 publications.
ORCID: 0000-0002-9382-613XPapers by this author
worksThe return of metabolism: biochemistry and physiology of the pentose phosphate pathway
2014 · Biological reviews/Biological reviews of the Cambridge Philosophical Society · 1,456 citations
Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress
2007 · Journal of Biology · 605 citations
https://doi.org/10.1186/jbiol61
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
2017 · Genetics in Medicine · 34 citations
https://doi.org/10.1038/gim.2016.203
Clinical and molecular characteristics of two transaldolase-deficient patients
2014 · European Journal of Pediatrics · 20 citations
https://doi.org/10.1007/s00431-014-2261-2
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
2020 · Molecular Genetics and Metabolism · 17 citations
https://doi.org/10.1016/j.ymgme.2020.04.004
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