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Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.魁北克萨格奈-圣让湖区的蛋白丢失性肠病-肝纤维化综合征是一种Ib型先天性糖基化障碍疾病。
J Med Genet. 2002 Nov;39(11):849-51. doi: 10.1136/jmg.39.11.849.
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引用本文的文献

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Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.先天性糖基化障碍的诊断与治疗方法
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Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.基于蛋白质不稳定性预测错义变体的致病性以支持对ARSL新变体患者的诊断。
Mol Genet Metab Rep. 2023 Oct 29;37:101016. doi: 10.1016/j.ymgmr.2023.101016. eCollection 2023 Dec.
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Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.甘露糖磷酸异构酶基因突变导致先天性糖基化障碍：一例罕见病例报告及文献综述
Front Pediatr. 2023 Apr 12;11:1150367. doi: 10.3389/fped.2023.1150367. eCollection 2023.
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MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.从肝脏角度看MPI-CDG：两例埃及病例报告及文献综述。
JIMD Rep. 2020 Sep 7;56(1):20-26. doi: 10.1002/jmd2.12159. eCollection 2020 Nov.
5
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.磷酸甘露糖异构酶基因中的一种新型纯合突变导致一名婴儿出现糖基化先天性疾病和高胰岛素血症性低血糖。
Clin Case Rep. 2018 Jan 25;6(3):479-483. doi: 10.1002/ccr3.1387. eCollection 2018 Mar.
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Clinical utility gene card for: Phosphomannose isomerase deficiency.磷酸甘露糖异构酶缺乏症临床应用基因卡片
Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.29. Epub 2014 Feb 26.
7
Metabolic manipulation of glycosylation disorders in humans and animal models.人类和动物模型中糖基化紊乱的代谢操纵。
Semin Cell Dev Biol. 2010 Aug;21(6):655-62. doi: 10.1016/j.semcdb.2010.03.011. Epub 2010 Apr 2.

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

作者信息

Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray J M, Durand G, Seta N

出版信息

J Med Genet. 2002 Nov;39(11):849-51. doi: 10.1136/jmg.39.11.849.

DOI:10.1136/jmg.39.11.849
PMID:12414827
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735008/
Abstract
摘要