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Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

作者信息

Eyskens F, Ceuterick C, Martin J J, Janssens G, Jaeken J

机构信息

General Pediatric Hospital, Antwerp, Belgium.

出版信息

Acta Paediatr. 1994 Aug;83(8):892-6. doi: 10.1111/j.1651-2227.1994.tb13166.x.

DOI:10.1111/j.1651-2227.1994.tb13166.x
PMID:7981572
Abstract

A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.

摘要

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1
Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
Acta Paediatr. 1994 Aug;83(8):892-6. doi: 10.1111/j.1651-2227.1994.tb13166.x.
2
[The carbohydrate deficient glycoprotein syndrome].
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引用本文的文献

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Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.糖基化先天性疾病中的骨骼和骨矿物质密度特征、基因概况：综述
Diagnostics (Basel). 2021 Aug 9;11(8):1438. doi: 10.3390/diagnostics11081438.
2
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.
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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.
4
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.一种由葡糖苷酶I缺乏导致N-连接寡糖生物合成缺陷引起的新型疾病。
Am J Hum Genet. 2000 Jun;66(6):1744-56. doi: 10.1086/302948. Epub 2000 Apr 28.
5
Carbohydrate-deficient glycoprotein syndromes.碳水化合物缺乏糖蛋白综合征
Postgrad Med J. 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145.
6
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).IA型碳水化合物缺乏糖蛋白综合征（磷酸甘露糖变位酶缺乏症）患者血清和白细胞中的溶酶体酶活性。
J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573.
7
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.磷酸甘露糖异构酶缺乏是血清唾液酸转铁蛋白呈现I型等电聚焦模式的糖缺乏性糖蛋白综合征的主要病因。
J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477.
8
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73.
9
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.
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