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Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.

作者信息

Maia M, Alves D, Ribeiro G, Pinto R, Sa Miranda M C

机构信息

Hospital de crianças Maria Pia, Porto, Portugal.

出版信息

Neuropediatrics. 1990 Feb;21(1):18-23. doi: 10.1055/s-2008-1071451.

DOI:10.1055/s-2008-1071451
PMID:2138256
Abstract

We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.

摘要

相似文献

1
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
Neuropediatrics. 1990 Feb;21(1):18-23. doi: 10.1055/s-2008-1071451.
2
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.GM2神经节苷脂贮积症的幼年型和慢性型:临床与酶学异质性。
Neurology. 1990 Jan;40(1):145-50. doi: 10.1212/wnl.40.1.145.
3
B1 variant of GM2 gangliosidosis in a 12-year-old patient.
Pediatr Res. 1989 Jan;25(1):89-93. doi: 10.1203/00006450-198901000-00019.
4
A case of the B1 variant of GM2-gangliosidosis.
J Inherit Metab Dis. 1990;13(3):280-2. doi: 10.1007/BF01799373.
5
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].[青春期发现的B1型GM2神经节苷脂贮积症,以中枢和周围神经系统的孤立性多系统受累为特征]
Rev Neurol (Paris). 1994;150(1):61-6.
6
GM2 gangliosidosis variant B1 neuroradiological findings.GM2神经节苷脂贮积症B1型的神经放射学表现
J Neurol. 2003 Jan;250(1):17-21. doi: 10.1007/s00415-003-0925-3.
7
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.迟发性GM2神经节苷脂沉积症的生化与分子层面:以B1变异型为原型
Dev Neurosci. 1991;13(4-5):288-94. doi: 10.1159/000112175.
8
Dystonia in GM2 gangliosidosis.GM2神经节苷脂沉积症中的肌张力障碍。
Mov Disord. 1992 Oct;7(4):390-1.
9
Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis.在一个患有GM2神经节苷脂贮积症B1变异型的家族中,通过直接DNA测序鉴定出β-己糖胺酶α亚基基因的“DN等位基因”(G533大于A)杂合性。
Neuropediatrics. 1992 Apr;23(2):96-101. doi: 10.1055/s-2008-1071320.
10
[GM2 gangliosidosis].
Ryoikibetsu Shokogun Shirizu. 1999(27 Pt 2):177-9.

引用本文的文献

1
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.青少年或亚急性GM2神经节苷脂沉积症的自然病史:21例新病例及对134例既往报道病例的文献综述
Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.
2
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.一个患有慢性B1型GM2神经节苷脂贮积症变异型的葡萄牙家庭的临床、酶学和分子特征分析
J Med Genet. 1996 Apr;33(4):341-3. doi: 10.1136/jmg.33.4.341.
3
Identification of GM2-gangliosidosis B1 variant carriers.
GM2神经节苷脂贮积症B1变异携带者的鉴定。
J Inherit Metab Dis. 1993;16(6):1003-11. doi: 10.1007/BF00711518.
4
Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.
J Inherit Metab Dis. 1991;14(5):715-20. doi: 10.1007/BF01799940.
5
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.GM2神经节苷脂贮积症B1变异型:葡萄牙特定地区11例患者的β-己糖胺酶α基因突变分析
Am J Hum Genet. 1991 Oct;49(4):886-90.