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Endocrine system disturbances in children with inherited metabolic diseases: a narrative review

Inborn metabolic diseases (IMDs) represent a diverse and complex group of rare disorders, typically resulting from variants in genes that encode specific enzymes or cofactors, leading to reduced or absent enzymatic activity. These conditions commonly disrupt one or more metabolic pathways, often imp...

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主要な著者: Veronica Maria Tagi, Laura Fiori, Chiara Montanari, Davide Tonduti, Matilde Ferrario, Mirko Gambino, Ilenia Pia Greco, Alessandra Cecchini, Valeria Calcaterra, Gianvincenzo Zuccotti, Elvira Verduci
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2025-12-01
シリーズ:Frontiers in Endocrinology
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オンライン・アクセス:https://www.frontiersin.org/articles/10.3389/fendo.2025.1717675/full
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