Inborn Errors of Metabolism —— From Neonatal Screening to Metabolic Pathways

----- 先天性代谢缺陷:从新生儿筛查到的代谢途径

ISBN: 9780199797585 出版年：2014 页码：393 Oxford University Press

Inborn Errors of Metabolism is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.