原发性辅酶Q10缺乏症：一组可治疗的异质性疾病。 - Suppr

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超能文献

Primary CoQ10 deficiency: treatable heterogeneous group of disorders.

作者信息

Spiegel Ronen

机构信息

Department of Pediatrics B, Emek Medical Center, Afula, Israel.

Rappaport School of Medicine, Technion, Haifa, Israel.

出版信息

Eur J Hum Genet. 2024 Jul 3. doi: 10.1038/s41431-024-01662-3.

DOI:10.1038/s41431-024-01662-3

PMID:38961313

Abstract

摘要

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本文引用的文献

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158.

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Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453.

A fatal case of -associated primary coenzyme Q deficiency.

JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May.

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20.

Biochemical Assessment of Coenzyme Q Deficiency.

J Clin Med. 2017 Mar 5;6(3):27. doi: 10.3390/jcm6030027.

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相似文献

Primary CoQ10 deficiency: treatable heterogeneous group of disorders.

Eur J Hum Genet. 2024 Jul 3. doi: 10.1038/s41431-024-01662-3.

Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.

Pediatr Nephrol. 2021 Nov;36(11):3515-3527. doi: 10.1007/s00467-020-04914-8. Epub 2021 Jan 22.

Coenzyme Q10 and Neurological Diseases.

Pharmaceuticals (Basel). 2009 Dec 1;2(3):134-149. doi: 10.3390/ph203134.

Coenzyme Q10 in neuromuscular and neurodegenerative disorders.

Curr Drug Targets. 2010 Jan;11(1):111-21. doi: 10.2174/138945010790031018.

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency.

Mol Genet Metab Rep. 2017 May 11;12:23-27. doi: 10.1016/j.ymgmr.2017.05.001. eCollection 2017 Sep.

Clinical spectrum in multiple families with primary COQ deficiency.

Am J Med Genet A. 2021 Feb;185(2):440-452. doi: 10.1002/ajmg.a.61983. Epub 2020 Nov 20.

Genetics of coenzyme q10 deficiency.

Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826.

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J Clin Med. 2020 Jun 19;9(6):1923. doi: 10.3390/jcm9061923.

Biochemical Assessment of Coenzyme Q Deficiency.

J Clin Med. 2017 Mar 5;6(3):27. doi: 10.3390/jcm6030027.

Depletion and Supplementation of Coenzyme Q10 in Secondary Deficiency Disorders.

Front Biosci (Landmark Ed). 2022 Dec 19;27(12):322. doi: 10.31083/j.fbl2712322.

本文引用的文献

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453.

A fatal case of -associated primary coenzyme Q deficiency.

JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May.

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20.

Biochemical Assessment of Coenzyme Q Deficiency.

J Clin Med. 2017 Mar 5;6(3):27. doi: 10.3390/jcm6030027.