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View from inside: Rare diseases in the times of COVID19.

作者信息

Vockley Jerry

机构信息

University of Pittsburgh School of Medicine and Graduate School of Public Health, UPMC Children's Hospital of Pittsburgh, Center for Rare Disease Therapy, Pittsburgh, Pennsylvania, USA.

出版信息

J Inherit Metab Dis. 2021 Jan;44(1):2-3. doi: 10.1002/jimd.12334. Epub 2020 Dec 2.

DOI:10.1002/jimd.12334
PMID:33236367
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7753813/
Abstract
摘要

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Orphanet J Rare Dis. 2022 Apr 12;17(1):166. doi: 10.1186/s13023-022-02312-x.

本文引用的文献

1
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).一项为期 78 周、单臂、开放标签的 2 期研究的结果,旨在评估 UX007 在患有严重长链脂肪酸氧化障碍(LC-FAOD)的儿科和成年患者中的疗效。
J Inherit Metab Dis. 2019 Jan;42(1):169-177. doi: 10.1002/jimd.12038.
2
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.三庚酸甘油酯与三辛酸甘油酯治疗长链脂肪酸氧化障碍:一项双盲、随机对照试验。
J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4.
3
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.用三庚酸甘油酯对长链脂肪氧化障碍进行回补治疗:15年经验回顾
Mol Genet Metab. 2015 Dec;116(4):260-8. doi: 10.1016/j.ymgme.2015.10.005. Epub 2015 Oct 24.
4
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.长链脂肪酸氧化障碍患者在转换为三庚酸甘油酯治疗前后的长期主要临床结局——一项回顾性病历审查
Mol Genet Metab. 2015 Sep-Oct;116(1-2):53-60. doi: 10.1016/j.ymgme.2015.06.006. Epub 2015 Jun 18.