Suppr超能文献

Editorial: Inborn errors of carbohydrate metabolism.

作者信息

Martínez-Duncker Iván, Doederlein-Schwartz Ida Vanessa, Abreu-González Melania, García-Ortiz José Elías

机构信息

Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.

Department of genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

出版信息

Front Genet. 2024 Jun 20;15:1430414. doi: 10.3389/fgene.2024.1430414. eCollection 2024.

Abstract
摘要

相似文献

1
Editorial: Inborn errors of carbohydrate metabolism.
Front Genet. 2024 Jun 20;15:1430414. doi: 10.3389/fgene.2024.1430414. eCollection 2024.
2
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
EMBO Mol Med. 2021 Oct 7;13(10):e14554. doi: 10.15252/emmm.202114554. Epub 2021 Sep 6.
4
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339.
5
Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.
Mol Genet Metab. 2012 Nov;107(3):469-79. doi: 10.1016/j.ymgme.2012.09.010. Epub 2012 Sep 15.
6
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
J Mol Med (Berl). 2017 May;95(5):513-521. doi: 10.1007/s00109-017-1505-9. Epub 2017 Feb 2.
7
A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.
Mol Genet Metab. 2016 Feb;117(2):114-9. doi: 10.1016/j.ymgme.2015.09.012. Epub 2015 Oct 3.
8
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
J Inherit Metab Dis. 2023 Jan;46(1):101-115. doi: 10.1002/jimd.12560. Epub 2022 Oct 17.
9
Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.
Hosp Pract (1995). 2022 Aug;50(3):244-250. doi: 10.1080/21548331.2021.1874182. Epub 2021 Jan 27.

本文引用的文献

1
From target discovery to clinical drug development with human genetics.
Nature. 2023 Aug;620(7975):737-745. doi: 10.1038/s41586-023-06388-8. Epub 2023 Aug 23.
3
Including diverse and admixed populations in genetic epidemiology research.
Genet Epidemiol. 2022 Oct;46(7):347-371. doi: 10.1002/gepi.22492. Epub 2022 Jul 16.
4
Why rare disease needs precision medicine-and precision medicine needs rare disease.
Cell Rep Med. 2022 Feb 15;3(2):100530. doi: 10.1016/j.xcrm.2022.100530.
5
Avalglucosidase alfa: First Approval.
Drugs. 2021 Oct;81(15):1803-1809. doi: 10.1007/s40265-021-01600-3.
6
Congenital disorders of glycosylation: Still "hot" in 2020.
Biochim Biophys Acta Gen Subj. 2021 Jan;1865(1):129751. doi: 10.1016/j.bbagen.2020.129751. Epub 2020 Sep 28.
7
CDG biochemical screening: Where do we stand?
Biochim Biophys Acta Gen Subj. 2020 Oct;1864(10):129652. doi: 10.1016/j.bbagen.2020.129652. Epub 2020 Jun 5.
8
Lysosomal storage disorders: molecular basis and laboratory testing.
Hum Genomics. 2011 Mar;5(3):156-69. doi: 10.1186/1479-7364-5-3-156.
9
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Neurology. 2007 Jan 9;68(2):99-109. doi: 10.1212/01.wnl.0000251268.41188.04. Epub 2006 Dec 6.

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