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Clinical utility gene card for: Phosphomannose isomerase deficiency.

作者信息

Jaeken Jaak, Lefeber Dirk, Matthijs Gert

机构信息

Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.

Dpartment of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboudumc, Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.29. Epub 2014 Feb 26.

DOI:10.1038/ejhg.2014.29
PMID:24569608
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4135420/
Abstract
摘要

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本文引用的文献

1
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.先天性糖基化障碍：影响多萜醇连接寡糖生物合成的缺陷的最新研究进展。
Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126.
2
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.磷酸甘露糖异构酶缺乏症的临床谱，以及对用于先天性糖基化障碍I型b型（CDG-Ib）的甘露糖治疗的评估。
Biochim Biophys Acta. 2009 Sep;1792(9):841-3. doi: 10.1016/j.bbadis.2008.11.012. Epub 2008 Dec 6.
3
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.未经治疗的半乳糖血症中，血清转铁蛋白N-聚糖岩藻糖基化增加且分支增多，同时伴有低糖基化。
Glycobiology. 2005 Dec;15(12):1268-76. doi: 10.1093/glycob/cwj021. Epub 2005 Jul 21.
4
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.
5
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.首例成人先天性糖基化代谢异常Ib型的遗传与代谢分析：长期预后及甘露糖补充的影响
Mol Genet Metab. 2001 May;73(1):77-85. doi: 10.1006/mgme.2001.3161.
6
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).人类磷酸甘露糖异构酶（MPI）基因的基因组结构及糖基化先天性疾病Ib型（CDG-Ib）患者的突变分析
Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A.
7
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.磷酸甘露糖异构酶缺乏症：一种以肝肠表现为主的碳水化合物缺乏糖蛋白综合征。
Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873.
8
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.Ib型糖缺乏糖蛋白综合征。磷酸甘露糖异构酶缺乏与甘露糖治疗。
J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350.
9
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.1-磷酸果糖对磷酸甘露糖异构酶的抑制作用：对遗传性果糖不耐受中N-糖基化缺陷的一种解释。
Pediatr Res. 1996 Nov;40(5):764-6. doi: 10.1203/00006450-199611000-00017.