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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan S, Mayers M, Weaver M, Baudet H, De Biase I, Goldstein J, Mao R, McGlaughon J, Moser A, Pujol A, Suchy S, Yuzyuk T, Braverman NE. Mohan S, et al. Among authors: de biase i. Mol Genet Metab. 2023 Jul;139(3):107604. doi: 10.1016/j.ymgme.2023.107604. Epub 2023 May 11. Mol Genet Metab. 2023. PMID: 37236006
Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders.
Hobert JA, De Biase I, Yuzyuk T, Pasquali M. Hobert JA, et al. Among authors: de biase i. Clin Chim Acta. 2021 Dec;523:285-289. doi: 10.1016/j.cca.2021.10.007. Epub 2021 Oct 8. Clin Chim Acta. 2021. PMID: 34634292
43 results