Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
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DOI：
10.1002/jimd.12241
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发表时间：
2020-07
影响因子：
4.2
通讯作者：
Honzík T
中科院分区：
文献类型：
--
作者：
Čechová A;Altassan R;Borgel D;Bruneel A;Correia J;Girard M;Harroche A;Kiec-Wilk B;Mohnike K;Pascreau T;Pawliński Ł;Radenkovic S;Vuillaumier-Barrot S;Aldamiz-Echevarria L;Couce ML;Martins EG;Quelhas D;Morava E;de Lonlay P;Witters P;Honzík T
甘露糖磷酸异构酶-先天性糖基化障碍（MPI-CDG）缺乏症是一种罕见的先天性蛋白质N-糖基化障碍亚型。其特征在于MPI基因中的致病性变异引起的MPI缺乏。MPI-CDG的表现与其他CDG不同，因为患者主要患有胃肠道和肝脏受累，而通常不会出现智力障碍或神经功能障碍。它也是少数几种可治疗的CDG亚型之一，口服甘露糖的效果已得到证实。本文涵盖了一个复杂的文献综述和建议的管理MPI-CDG的临床方面的疾病的重点。一个国际专家小组根据循证数据和专家意见，对每个系统/器官受累的诊断、鉴别诊断、管理和治疗进行了总结和建议。这些指南也揭示了MPI-CDG需要进一步研究的更多问题。
Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of protein N-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts’ opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.
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影响因子：
2.7
作者：
Barone, Rita;Fiumara, Agata;Jaeken, Jaak
通讯作者：
Jaeken, Jaak
影响因子：
158.5
作者：
FREINKEL, N;LEWIS, NJ;GORMAN, L
通讯作者：
GORMAN, L
影响因子：
4.2
作者：
Böhles, H;Sewell, AC;Marquardt, T
通讯作者：
Marquardt, T
DOI：
10.1038/nsb0596-470
发表时间：
1996-05-01
期刊：
NATURE STRUCTURAL BIOLOGY
影响因子：
--
作者：
Cleasby, A;Wonacott, A;Wells, TNC
通讯作者：
Wells, TNC
影响因子：
1.8
作者：
Boyer, MZ;de Lonlay, P;Cézard, JP
通讯作者：
Cézard, JP