• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Nutritional Management of Patients with Inborn Errors of Metabolism.先天性代谢缺陷患者的营养管理
Nutrients. 2024 Nov 30;16(23):4154. doi: 10.3390/nu16234154.
2
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.扩大研究范围，为代谢性先天缺陷的营养干预管理提供证据基础。
Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23.
3
Possibilities and limitations of dietary therapy for inborn errors of metabolism.
Forum Nutr. 2003;56:225-6.
4
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework.使用 i-PARIHS 框架改善成年代谢性遗传病患者的营养流程。
Nutr Diet. 2019 Apr;76(2):141-149. doi: 10.1111/1747-0080.12517. Epub 2019 Mar 7.
5
[GASTROSTOMY POSITIVELY AFFECTS NUTRITIONAL STATUS AND DIMINISHES HOSPITAL DAYS IN PATIENTS WITH INBORN ERRORS OF METABOLISM].
Nutr Hosp. 2015 Jul 1;32(1):208-14. doi: 10.3305/nh.2015.32.1.9043.
6
Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.通过新生儿筛查确定的先天性代谢缺陷：用于研究议程规划的十年发病率数据及营养干预成本
Mol Genet Metab. 2014 Sep-Oct;113(1-2):14-26. doi: 10.1016/j.ymgme.2014.07.009. Epub 2014 Jul 16.
7
New ways of defining protein and energy relationships in inborn errors of metabolism.在先天性代谢缺陷中定义蛋白质和能量关系的新方法。
Mol Genet Metab. 2014 Aug;112(4):247-58. doi: 10.1016/j.ymgme.2014.05.008. Epub 2014 May 22.
8
Inborn errors of metabolism and their status in India.先天性代谢缺陷及其在印度的状况。
Clin Lab Med. 2012 Jun;32(2):263-79. doi: 10.1016/j.cll.2012.04.006.
9
Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.遗传性代谢病概述：病理生理学、临床表现、评估与管理
Pediatr Clin North Am. 2018 Apr;65(2):179-208. doi: 10.1016/j.pcl.2017.11.002.
10
[Treatment of inborn metabolic disorders].[先天性代谢紊乱的治疗]
Ugeskr Laeger. 2002 Nov 25;164(48):5619-23.

本文引用的文献

1
Genetic Variants Affecting Iron Metabolism in Healthy Adults: A Systematic Review to Support Personalized Nutrition Strategies.影响健康成年人铁代谢的遗传变异：支持个性化营养策略的系统评价。
Nutrients. 2024 Nov 5;16(22):3793. doi: 10.3390/nu16223793.
2
AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet.AminoApp：首个用于监测低蛋白饮食患者先天性代谢缺陷的巴西饮食监测应用程序。
Healthc Inform Res. 2024 Oct;30(4):409-415. doi: 10.4258/hir.2024.30.4.409. Epub 2024 Oct 31.
3
Factors Affecting Adherence to a Low Phenylalanine Diet in Patients with Phenylketonuria: A Systematic Review.影响苯丙酮尿症患者遵守低苯丙氨酸饮食的因素：系统评价。
Nutrients. 2024 Sep 15;16(18):3119. doi: 10.3390/nu16183119.
4
Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders.测定水果、蔬菜和淀粉根茎中的蛋白质和氨基酸含量，用于遗传性代谢疾病。
Nutrients. 2024 Aug 23;16(17):2812. doi: 10.3390/nu16172812.
5
Nutrient Status and Intakes of Adults with Phenylketonuria.苯丙酮尿症成人的营养状况和摄入量。
Nutrients. 2024 Aug 15;16(16):2724. doi: 10.3390/nu16162724.
6
Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria.考来烯胺治疗尿黑酸症患者的体成分、营养指标及营养干预
Nutrients. 2024 Aug 15;16(16):2722. doi: 10.3390/nu16162722.
7
Nutritional Management of Patients with Fatty Acid Oxidation Disorders.脂肪酸氧化障碍患者的营养管理。
Nutrients. 2024 Aug 14;16(16):2707. doi: 10.3390/nu16162707.
8
Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.苯丙酮尿症和其他氨基酸代谢障碍患儿的母乳喂养：单中心经验
Nutrients. 2024 Aug 3;16(15):2544. doi: 10.3390/nu16152544.
9
Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study.苯丙酮尿症患者的无苯丙氨酸婴儿配方：一项回顾性研究。
Nutrients. 2024 Jul 10;16(14):2204. doi: 10.3390/nu16142204.
10
Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status.γ-球蛋白血症 G 类存在于丙酸缺陷的代偿和失代偿患者中，与他们的营养状况无关。
Nutrients. 2024 Jun 5;16(11):1775. doi: 10.3390/nu16111775.

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.

DOI:10.3390/nu16234154
PMID:39683548
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11644859/
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[...]。