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Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.
Front Mol Biosci. 2023 Apr 4;10:1154149. doi: 10.3389/fmolb.2023.1154149. eCollection 2023.
Front Mol Biosci. 2023.
PMID: 37081853
Free PMC article.
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M.
Wakil SM, et al.
Int J Dermatol. 2016 Jun;55(6):673-9. doi: 10.1111/ijd.13279. Epub 2016 Apr 7.
Int J Dermatol. 2016.
PMID: 27061915
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