Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
2017 · Genetics in Medicine · 237 citations
https://doi.org/10.1038/gim.2017.101
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Clara van Karnebeek
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Clara van Karnebeek is an academic researcher from Emma Kinderziekenhuis. The author has contributed to research in topics: Genomics and Rare Diseases & Metabolism and Genetic Disorders & Genetics and Neurodevelopmental Disorders. The author has an h-index of 50, co-authored 194 publications.
ORCID: 0000-0003-3352-5631Papers by this author
worksFLAGS, frequently mutated genes in public exomes
2014 · BMC Medical Genomics · 168 citations
https://doi.org/10.1186/s12920-014-0064-y
Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
2012 · Molecular Genetics and Metabolism · 104 citations
https://doi.org/10.1016/j.ymgme.2012.09.006
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
2014 · Molecular Genetics and Metabolism · 76 citations
https://doi.org/10.1016/j.ymgme.2014.05.011
Altered<i>PLP1</i>splicing causes hypomyelination of early myelinating structures
2015 · Annals of Clinical and Translational Neurology · 42 citations
https://doi.org/10.1002/acn3.203
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
2019 · Genetics in Medicine · 42 citations
https://doi.org/10.1038/s41436-019-0635-6
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