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pro vyhledávání: '"MESH: Metabolism, Inborn Errors* / diagnosis"'
Publikováno v:
médecine/sciences
médecine/sciences, 2021, 37 (5), pp.507-518. ⟨10.1051/medsci/2021057⟩
médecine/sciences, 2021, 37 (5), pp.507-518. ⟨10.1051/medsci/2021057⟩
Inborn Errors of Metabolism (IEM) are rare and heterogenous disorders. For most IEMs, clinical signs are non-specific or belated. Late diagnosis is frequent, leading to death or severe sequelae. Some IEM induce intermediate metabolites circulating in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deae06826ea2e5b874c9d2718b08c04f
https://doi.org/10.1051/medsci/2021057
https://doi.org/10.1051/medsci/2021057