Suppr超能文献

CDG or not CDG.

作者信息

Freeze Hudson H, Jaeken Jaak, Matthijs Gert

机构信息

Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA.

Center of Metabolic Diseases, KU Leuven, Leuven, Belgium.

出版信息

J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1.

Abstract
摘要

相似文献

1
CDG or not CDG.
J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1.
2
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
J Inherit Metab Dis. 2011 Aug;34(4):853-8. doi: 10.1007/s10545-011-9299-3. Epub 2011 Mar 8.
3
Congenital disorders of glycosylation.
Handb Clin Neurol. 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7.
4
What is new in CDG?
J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8.
5
MGAT2-CDG (CDG-IIa) and dysmorphism.
Am J Med Genet A. 2012 Nov;158A(11):2974-5; author reply 2976. doi: 10.1002/ajmg.a.35314. Epub 2012 Sep 28.
6
Congenital disorders of glycosylation (CDG): Quo vadis?
Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25.
8
Congenital disorders of glycosylation--a challenging group of IEMs.
J Inherit Metab Dis. 2008 Apr;31(2):267-9. doi: 10.1007/s10545-008-0849-2. Epub 2008 Apr 4.
9
CDG Therapies: From Bench to Bedside.
Int J Mol Sci. 2018 Apr 27;19(5):1304. doi: 10.3390/ijms19051304.

引用本文的文献

3
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Hum Mutat. 2024 Oct 3;2024:8813121. doi: 10.1155/2024/8813121. eCollection 2024.
4
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).
J Inherit Metab Dis. 2025 Jan;48(1):e12782. doi: 10.1002/jimd.12782. Epub 2024 Aug 6.
5
Genetics of glycosylation in mammalian development and disease.
Nat Rev Genet. 2024 Oct;25(10):715-729. doi: 10.1038/s41576-024-00725-x. Epub 2024 May 9.
6
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
Mol Genet Metab. 2024 May;142(1):108476. doi: 10.1016/j.ymgme.2024.108476. Epub 2024 Apr 10.
7
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z.
8
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30.
9
2023 Padua Days of Muscle and Mobility Medicine: post-meeting Book of Abstracts.
Eur J Transl Myol. 2023 Apr 27;33(2):11427. doi: 10.4081/ejtm.2023.11427.

本文引用的文献

1
Chemical Therapies for Congenital Disorders of Glycosylation.
ACS Chem Biol. 2022 Nov 18;17(11):2962-2971. doi: 10.1021/acschembio.1c00601. Epub 2021 Nov 17.
2
Small RNAs are modified with N-glycans and displayed on the surface of living cells.
Cell. 2021 Jun 10;184(12):3109-3124.e22. doi: 10.1016/j.cell.2021.04.023. Epub 2021 May 17.
3
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7.
4
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.
5
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013.
7
Mutations in lead to a glycosylation disorder with a variable phenotype.
Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29.
8
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.
10
CDG nomenclature: time for a change!
Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005.

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