Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
作者信息
Sandal Sapna, Razdan Tinku Bali, Verma Jyotsna, Dubey Sudhisha, Ghosh Apurba, Saxena Renu, Puri Ratna Dua
机构信息
Institute of Medical Genetics and Genomics.
Department of Ophthalmology, Sir Ganga Ram Hospital, New Delhi.
出版信息
Clin Dysmorphol. 2021 Apr 1;30(2):110-114. doi: 10.1097/MCD.0000000000000361.
PMID:33290291
Abstract
摘要
相似文献
1
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.一个家族中的α-甘露糖苷贮积症：伴有罕见视网膜营养不良的自然病史。
Clin Dysmorphol. 2021 Apr 1;30(2):110-114. doi: 10.1097/MCD.0000000000000361.
2
Retinal dystrophy in 2 brothers with α-Mannosidosis.2名患有α-甘露糖苷贮积症的兄弟出现视网膜营养不良。
Arch Ophthalmol. 2011 Jun;129(6):799-802. doi: 10.1001/archophthalmol.2011.134.
3
Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.一个中国α-甘露糖苷贮积症家系的分子诊断及一个新错义突变的鉴定
J Pediatr Endocrinol Metab. 2014 May;27(5-6):491-5. doi: 10.1515/jpem-2013-0307.
4
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.amamutdb.no：一个用于MAN2B1等位基因变异的关系数据库，该数据库汇编了α-甘露糖苷贮积症中突变型MAN2B1的基因型、临床表型以及生化和结构数据。
Hum Mutat. 2015 Jun;36(6):581-6. doi: 10.1002/humu.22787. Epub 2015 Apr 9.
5
Sisters with alpha-mannosidosis and systemic lupus erythematosus.
Eur J Pediatr. 2004 Apr;163(4-5):192-5. doi: 10.1007/s00431-004-1404-2. Epub 2004 Feb 4.
6
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.α-甘露糖苷贮积症-一种具有“MPS 样”表型个体中被漏诊的溶酶体贮积症。
Mol Genet Metab. 2020 Jun;130(2):149-152. doi: 10.1016/j.ymgme.2020.04.001. Epub 2020 Apr 10.
7
Lysosomal alpha-mannosidase and alpha-mannosidosis.溶酶体α-甘露糖苷酶和α-甘露糖苷贮积症。
Front Biosci (Landmark Ed). 2017 Jan 1;22(1):157-167. doi: 10.2741/4478.
8
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.意大利α-甘露糖苷贮积症患者中五个新的MAN2B1突变的鉴定与特征分析
Hum Mutat. 2005 Mar;25(3):320. doi: 10.1002/humu.9310.
9
Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis.
J Inherit Metab Dis. 2003;26(8):819-20. doi: 10.1023/b:boli.0000010006.87571.48.
10
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.儿童轻度表型α-甘露糖苷贮积症的早期听力障碍：7 例新病例报告。
Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26.
Zotero 插件