Endocrine manifestations related to inherited metabolic diseases in adults
2012 · Orphanet Journal of Rare Diseases · 48 citations
https://doi.org/10.1186/1750-1172-7-11
K
Karine Mention
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108
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26
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43
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Karine Mention is an academic researcher from Centre Hospitalier Universitaire de Lille. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genomics and Rare Diseases & Trauma, Hemostasis, Coagulopathy, Resuscitation. The author has an h-index of 26, co-authored 92 publications.
Papers by this author
worksEfficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
2016 · Orphanet Journal of Rare Diseases · 40 citations
https://doi.org/10.1186/s13023-016-0513-0
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
2023 · Nature Communications · 28 citations
https://doi.org/10.1038/s41467-023-36277-7
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
2015 · Orphanet Journal of Rare Diseases · 25 citations
https://doi.org/10.1186/s13023-015-0375-x
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
2025 · Genome Medicine · 8 citations
https://doi.org/10.1186/s13073-025-01440-w
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
2023 · Biomedicine & Pharmacotherapy · 7 citations
https://doi.org/10.1016/j.biopha.2023.114813
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