Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Published:2014-07 Issue:3 Volume:112 Page:210-217
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Frazier Dianne M.,Allgeier Courtney,Homer Caroline,Marriage Barbara J.,Ogata Beth,Rohr Frances,Splett Patricia L.,Stembridge Adrya,Singh Rani H.

Funder

HRSA

MSUD Family Support Network

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference71 articles.

1. Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines;Singh;J. Eval. Clin. Pract.,2013

2. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype;Chuang;J. Biol. Chem.,2004

3. Maple Syrup Urine Disease (Branched-chain Ketoaciduria);Chuang,2008

4. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression;Nellis;Mol. Genet. Metab.,2003

Cited by 135 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A case of concurrent malnutrition in maple syrup urine disease: challenges and solutions in Indonesia;Discover Medicine;2024-08-29

2. Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening;Pediatrics;2024-07-03

3. Innovative Pharmaceutical Techniques for Paediatric Dosage Forms: A Systematic Review on 3D Printing, Prilling/Vibration and Microfluidic Platform;Journal of Pharmaceutical Sciences;2024-07

4. Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders;International Journal of Pharmaceutics;2024-05

5. Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype;JIMD Reports;2024-04-08

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3