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Clinical utility gene card for: Phosphomannomutase 2 deficiency.磷酸甘露糖变位酶2缺乏症的临床实用基因卡片
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[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].先天性糖基化代谢异常Ia型（CDG Ia）——诊断不足的疾病？
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Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).高胰岛素血症性低血糖症——先天性糖基化障碍Ia型（磷酸甘露糖变位酶缺乏症）患者的主要症状。
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Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.因磷酸甘露糖变位酶缺乏导致的糖缺失性糖蛋白综合征：拉丁美洲首例报告病例。
Am J Med Genet. 1999 Jun 11;84(5):481-3. doi: 10.1002/(sici)1096-8628(19990611)84:5<481::aid-ajmg13>3.3.co;2-z.
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The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).磷酸甘露糖变位酶2缺乏症（CDG-Ia）的临床谱
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Congenital disorders of glycosylation with neonatal presentation.伴有新生儿表现的先天性糖基化障碍
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Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.磷酸甘露糖异构酶-2二聚体界面稳定性及与磷酸甘露糖异构酶-1异源二聚化的分析
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2
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.体外受精（IVF）联合胚胎植入前遗传学检测用于罗马尼亚先天性糖基化障碍 I 型（CDG-Ia）携带者夫妇的单基因疾病（PGT-M）：病例报告。
Genes (Basel). 2020 Jun 25;11(6):697. doi: 10.3390/genes11060697.

本文引用的文献

1
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.伊比利亚半岛磷酸甘露糖变位酶缺乏症的分子图谱：15种群体特异性突变的鉴定
JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.
2
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.
3
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).磷酸甘露糖变位酶2缺乏症（CDG-Ia）的临床谱
Biochim Biophys Acta. 2009 Sep;1792(9):827-34. doi: 10.1016/j.bbadis.2009.01.003. Epub 2009 Jan 14.
4
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.两名先天性糖基化障碍I型（CDG-Ia）患者中两种罕见的PMM2截短突变的特征分析
Mol Genet Metab. 2007 Apr;90(4):408-13. doi: 10.1016/j.ymgme.2007.01.003. Epub 2007 Feb 16.
5
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.
6
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.由于传递比率失真，先天性糖基化障碍Ia型（CDG-Ia）的复发风险增加。
J Med Genet. 2004 Nov;41(11):877-80. doi: 10.1136/jmg.2004.022350.
7
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).患者成纤维细胞中PMM2的高残留活性：先天性糖基化障碍I型a（磷酸甘露糖异构酶缺乏症）诊断中可能存在的陷阱。
Am J Hum Genet. 2001 Feb;68(2):347-54. doi: 10.1086/318199. Epub 2001 Jan 11.
8
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.伴有磷酸甘露糖变位酶活性缺乏但血浆糖蛋白模式正常的先天性糖基化障碍Ia型
Clin Chem. 2001 Jan;47(1):132-4.
9
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).先天性糖基化代谢异常Ia型（CDG-Ia）中最常见的PMM2突变不符合哈迪-温伯格平衡。
Eur J Hum Genet. 2000 May;8(5):367-71. doi: 10.1038/sj.ejhg.5200470.
10
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.IA型糖蛋白缺乏综合征中发现的突变对磷酸甘露糖变位酶2活性的影响。
FEBS Lett. 1999 Jun 11;452(3):319-22. doi: 10.1016/s0014-5793(99)00673-0.

Clinical utility gene card for: Phosphomannomutase 2 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.

Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Disease, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.298. Epub 2014 Jan 15.

DOI:10.1038/ejhg.2013.298
PMID:24424124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4350603/
Abstract
摘要