紀錄類型 : 書目-語言資料,印刷品: 單行本
其他作者 : Saudubray, J. M.
出版項 : Berlin, Germany :Springer,[2022]
面頁冊數 : xxxix, 894 pages :color illustrations ;29 cm
簡介 : This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
標題 : Metabolism, Inborn Errors - therapy -
版本 : Seventh edition.
ISBN : 9783662631225
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245 00$aInborn metabolic diseases :$bdiagnosis and treatment /$cJean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John H. Walter, editors.
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