Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
作者信息
Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N
出版信息
J Med Genet. 2000 Nov;37(11):875-7. doi: 10.1136/jmg.37.11.875.
Abstract
摘要
相似文献
1
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.先天性糖基化障碍IIa型会导致生长发育迟缓、智力迟钝和面部畸形。
J Med Genet. 2000 Nov;37(11):875-7. doi: 10.1136/jmg.37.11.875.
2
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.伴有 O-连接的 N-乙酰葡萄糖胺转移酶单核苷酸变异的智力障碍综合征。
Eur J Hum Genet. 2020 Jun;28(6):706-714. doi: 10.1038/s41431-020-0589-9. Epub 2020 Feb 20.
3
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.一名患有癫痫、认知发育正常且转铁蛋白等电聚焦正常的男性患者的ALG13 - 先天性糖基化障碍
Am J Med Genet A. 2017 Oct;173(10):2772-2775. doi: 10.1002/ajmg.a.38377. Epub 2017 Aug 4.
4
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.DPAGT1 中的复合杂合突变导致具有相对较轻表型的先天性糖基化障碍。
Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19.
5
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.ALG13 伴 X 连锁智力障碍：新变异体、糖基化分析和扩展表型。
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.
6
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.糖基化先天性疾病 I 的广泛临床表型：26 例病例系列
J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14.
7
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.外显子组测序在一名患有糖基化正常且随机X染色体失活的婴儿型癫痫性脑病女性中鉴定出一个c.320A＞G的ALG13变异体：文献综述
Eur J Med Genet. 2017 Oct;60(10):541-547. doi: 10.1016/j.ejmg.2017.07.014. Epub 2017 Aug 1.
8
Carbohydrate-deficient glycoprotein syndrome type II.II型糖缺乏性糖蛋白综合征
Biochim Biophys Acta. 1999 Oct 8;1455(2-3):179-92. doi: 10.1016/s0925-4439(99)00054-x.
9
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.MGAT2-CDG 中的免疫功能障碍：临床报告及文献复习。
Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12.
10
Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome.伴有翼状胬肉、身材矮小及独特面容的智力发育迟缓。一种新的MCA/MR综合征的确诊。
Clin Genet. 1988 Oct;34(4):279-81. doi: 10.1111/j.1399-0004.1988.tb02877.x.
引用本文的文献
1
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.MGAT2-CDG 中的免疫功能障碍：临床报告及文献复习。
Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12.
2
Human -acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite.人乙酰氨基葡萄糖基转移酶 II 底物识别使用包括会聚外位的模块化架构。
Proc Natl Acad Sci U S A. 2018 May 1;115(18):4637-4642. doi: 10.1073/pnas.1716988115. Epub 2018 Apr 16.
3
Biological roles of glycans.聚糖的生物学作用。
Glycobiology. 2017 Jan;27(1):3-49. doi: 10.1093/glycob/cww086. Epub 2016 Aug 24.
4
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.磷酸葡萄糖变位酶3（PGM3）的低表达纯合突变会损害免疫力并提高血清IgE水平。
J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1.
5
Substrate specificities and intracellular distributions of three N-glycan processing enzymes functioning at a key branch point in the insect N-glycosylation pathway.三种在昆虫 N-糖基化途径关键分支点发挥作用的 N-糖基化加工酶的底物特异性和细胞内分布。
J Biol Chem. 2012 Mar 2;287(10):7084-97. doi: 10.1074/jbc.M111.296814. Epub 2012 Jan 11.
6
Mouse models for congenital disorders of glycosylation.先天性糖基化障碍的小鼠模型。
J Inherit Metab Dis. 2011 Aug;34(4):879-89. doi: 10.1007/s10545-011-9295-7. Epub 2011 Feb 24.
7
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!科姆罗尔讲座。先天性糖基化障碍（CDG）：全在于此！
J Inherit Metab Dis. 2003;26(2-3):99-118. doi: 10.1023/a:1024431131208.
Zotero 插件