Suppr超能文献

相似文献

2
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28.
4
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Clin Chim Acta. 2009 Jun 27;404(2):95-9. doi: 10.1016/j.cca.2009.02.015. Epub 2009 Mar 3.
7
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Mol Genet Metab. 2013 Jun;109(2):154-60. doi: 10.1016/j.ymgme.2013.04.007. Epub 2013 Apr 11.
10
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30.

引用本文的文献

1
Lipid deposition myopathy due to compound heterozygous mutation in the gene: a case report.
Rheumatol Adv Pract. 2025 May 20;9(3):rkaf056. doi: 10.1093/rap/rkaf056. eCollection 2025.
2
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.
J Clin Neurol. 2024 Jul;20(4):422-430. doi: 10.3988/jcn.2023.0265.
3
A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II.
Rheumatol Immunol Res. 2023 Sep 27;4(3):173-175. doi: 10.2478/rir-2023-0026. eCollection 2023 Sep.
4
Case report: A novel c.1842_1845dup mutation of in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency.
Front Pediatr. 2023 Jan 4;10:1038440. doi: 10.3389/fped.2022.1038440. eCollection 2022.
5
Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
Front Neurol. 2022 Dec 15;13:991060. doi: 10.3389/fneur.2022.991060. eCollection 2022.
6
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
Front Neurol. 2022 Mar 3;13:815523. doi: 10.3389/fneur.2022.815523. eCollection 2022.
8
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to Mutations in Five Patients: A Case Series.
Front Neurol. 2021 Nov 8;12:747360. doi: 10.3389/fneur.2021.747360. eCollection 2021.
10
Mitochondria in migraine pathophysiology - does epigenetics play a role?
Arch Med Sci. 2019 Jul;15(4):944-956. doi: 10.5114/aoms.2019.86061. Epub 2019 Jun 20.

本文引用的文献

2
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.
4
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis. 2014 May;37(3):399-404. doi: 10.1007/s10545-013-9671-6. Epub 2013 Dec 20.
8
The electron transfer flavoprotein: ubiquinone oxidoreductases.
Biochim Biophys Acta. 2010 Dec;1797(12):1910-6. doi: 10.1016/j.bbabio.2010.10.007. Epub 2010 Oct 16.
10
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6. doi: 10.1136/jnnp.2009.176404. Epub 2009 Sep 15.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验