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How to find and diagnose a CDG due to defective N-glycosylation.

作者信息

Lefeber Dirk J, Morava Eva, Jaeken Jaak

出版信息

J Inherit Metab Dis. 2011 Aug;34(4):849-52. doi: 10.1007/s10545-011-9370-0. Epub 2011 Jul 8.

DOI:10.1007/s10545-011-9370-0
PMID:21739167
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3137781/
Abstract
摘要

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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.具有2型转铁蛋白模式的未确诊先天性糖基化障碍（CDG）患者的临床和诊断方法
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2
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.采用质谱法对 II 型糖基化紊乱先天性疾病进行血浆 N-聚糖谱分析。
Clin Chem. 2011 Apr;57(4):593-602. doi: 10.1373/clinchem.2010.153635. Epub 2011 Jan 27.
3
Congenital disorders of glycosylation.
先天性糖基化障碍的诊断与治疗方法
Handb Exp Pharmacol. 2025;288:211-241. doi: 10.1007/164_2025_745.
4
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.绘制先天性糖基化障碍（CDG）的诊断之旅：来自社区的见解。
Orphanet J Rare Dis. 2024 Nov 1;19(1):407. doi: 10.1186/s13023-024-03389-2.
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Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.通过 CRISPR 生成的细胞模型对 FCSK-先天性糖基化紊乱的新认识。
Mol Genet Genomic Med. 2024 May;12(5):e2445. doi: 10.1002/mgg3.2445.
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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.一种补体 C4 衍生的糖肽是 PMM2-CDG 的生物标志物。
JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509.
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Genetic counseling for congenital disorders of glycosylation (CDG).先天性糖基化障碍（CDG）的遗传咨询
J Genet Couns. 2024 Dec;33(6):1358-1364. doi: 10.1002/jgc4.1856. Epub 2024 Jan 19.
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Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.肝移植恢复肝 N-糖基化，伴有持续的 IgG 糖基化异常：一例磷酸甘露糖变位酶-2 先天性糖基化障碍患者的 3 年随访。
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Novel Missense Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.在两个患有发育迟缓、癫痫、智力残疾和攻击性行为的巴基斯坦近亲家庭中发现新型错义变异。
Front Neurol. 2022 Jul 14;13:918022. doi: 10.3389/fneur.2022.918022. eCollection 2022.
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Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.病例报告：DPM1-CDG：具有严重表型的新型变异体及文献综述
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.一种新型的小脑-眼综合征，由于多萜醇代谢异常导致糖基化异常。
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Mol Diagn Ther. 2007;11(5):303-11. doi: 10.1007/BF03256251.
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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.小脑共济失调与糖基化先天性疾病Ia型（CDG-Ia），常规CDG筛查结果正常。
J Neurol. 2007 Oct;254(10):1356-8. doi: 10.1007/s00415-007-0546-3. Epub 2007 Aug 15.