Editorial: Nutritional management of patients with inborn errors of metabolism.
作者信息
Pedrón-Giner Consuelo, Aldamiz-Echevarria Luis, Couce María L
机构信息
Department of Pediatrics, Niño Jesús University Children's Hospital, Madrid, Spain.
Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
出版信息
Front Nutr. 2024 Nov 28;11:1523957. doi: 10.3389/fnut.2024.1523957. eCollection 2024.
Abstract
摘要
相似文献
1
Editorial: Nutritional management of patients with inborn errors of metabolism.社论：先天性代谢缺陷患者的营养管理
Front Nutr. 2024 Nov 28;11:1523957. doi: 10.3389/fnut.2024.1523957. eCollection 2024.
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
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.
4
Nutritional management of infants with inborn metabolic errors.先天性代谢缺陷婴儿的营养管理。
Clin Perinatol. 1975 Sep;2(2):361-72.
5
Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.遗传性代谢紊乱：慢性营养管理的各个方面。
Nutr Clin Pract. 2015 Aug;30(4):502-10. doi: 10.1177/0884533615586201. Epub 2015 Jun 16.
6
The dietary management of inborn errors of metabolism.先天性代谢缺陷的饮食管理。
Hum Nutr Appl Nutr. 1985 Aug;39(4):255-72.
7
INBORN ERRORS OF METABOLISM.先天性代谢缺陷
J Am Diet Assoc. 1965 Apr;46:280-4.
8
Inborn errors of metabolism: the need for sugar.先天性代谢缺陷：对糖的需求
J Hum Nutr. 1979 Apr;33(2):146-54. doi: 10.3109/09637487909143365.
9
Inborn Errors of Fructose Metabolism. What Can We Learn from Them?果糖代谢的先天性缺陷。我们能从中学到什么？
Nutrients. 2017 Apr 3;9(4):356. doi: 10.3390/nu9040356.
10
本文引用的文献
1
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).苯丙氨酸羟化酶缺乏症的治疗和管理：美国医学遗传学与基因组学学会（ACMG）的系统证据综述。
Genet Med. 2023 Sep;25(9):100358. doi: 10.1016/j.gim.2022.12.005. Epub 2023 Jul 20.
2
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.葡萄糖转运蛋白1缺乏综合征（Glut1DS）：2020年的最新进展及国际Glut1DS研究组的建议
Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep.
3
The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.通过综合的“多组学”方法诊断先天性代谢缺陷：涵盖基因组学、转录组学和蛋白质组学的视角。
J Inherit Metab Dis. 2020 Jan;43(1):25-35. doi: 10.1002/jimd.12130. Epub 2019 Jun 25.
4
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.基于病理生理学方法的 IMD 简化分类建议：临床医生实用指南。
J Inherit Metab Dis. 2019 Jul;42(4):706-727. doi: 10.1002/jimd.12086. Epub 2019 Apr 24.
5
Laboratory diagnostic approaches in metabolic disorders.代谢紊乱的实验室诊断方法。
Ann Transl Med. 2018 Dec;6(24):470. doi: 10.21037/atm.2018.11.05.
6
Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.全球先天性代谢缺陷的出生率和死亡率：系统分析证据。
J Glob Health. 2018 Dec;8(2):021102. doi: 10.7189/jogh.08.021102.
7
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.
8
Expanded newborn screening by mass spectrometry: New tests, future perspectives.通过质谱法进行的扩大新生儿筛查：新检测方法与未来展望
Mass Spectrom Rev. 2016 Jan-Feb;35(1):71-84. doi: 10.1002/mas.21463. Epub 2015 May 7.
9
Primary immunodeficiency.原发性免疫缺陷病。
Allergy Asthma Clin Immunol. 2011 Nov 10;7 Suppl 1(Suppl 1):S11. doi: 10.1186/1710-1492-7-S1-S11.
Zotero 插件