先天性代谢缺陷患者的营养管理
Nutritional Management of Patients with Inborn Errors of Metabolism.
作者信息
Couce María-Luz, Vitoria Isidro
机构信息
Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, Faculty of Medicine, Santiago de Compostela University, 15704 Santiago de Compostela, Spain.
IDIS-Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain.
出版信息
Nutrients. 2024 Nov 30;16(23):4154. doi: 10.3390/nu16234154.
Abstract
Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...].
摘要
先天性代谢缺陷（IEM）是一大类单基因疾病，由生化和代谢途径中的酶缺陷引起[...]。
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