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J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24.
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CDG and immune response: From bedside to bench and back.CDG 与免疫反应：从临床到基础再到临床。
J Inherit Metab Dis. 2020 Jan;43(1):90-124. doi: 10.1002/jimd.12126. Epub 2019 Jun 25.
3
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.国际磷酸甘露糖变位酶 2 型先天性糖基化障碍临床指南：诊断、治疗和随访。
J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024.
4
Specific Antibody Deficiency: Controversies in Diagnosis and Management.特异性抗体缺陷：诊断与管理中的争议
Front Immunol. 2017 May 22;8:586. doi: 10.3389/fimmu.2017.00586. eCollection 2017.
5
Effects of N-glycosylation on protein conformation and dynamics: Protein Data Bank analysis and molecular dynamics simulation study.N-糖基化对蛋白质构象和动力学的影响：蛋白质数据库分析与分子动力学模拟研究
Sci Rep. 2015 Mar 9;5:8926. doi: 10.1038/srep08926.

Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency.

作者信息

Sitek Andrea, Ligezka Anna, Budhraja Rohit, Morava Eva, Chiarella Sergio E

机构信息

Division of Allergic Diseases, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

出版信息

J Clin Immunol. 2023 May;43(4):692-694. doi: 10.1007/s10875-023-01429-3. Epub 2023 Jan 12.

DOI:10.1007/s10875-023-01429-3
PMID:36631682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10155826/
Abstract
摘要