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1
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.构音障碍和口吃作为三名兄弟姐妹迟发性泰-萨克斯病的首发症状
Mov Disord Clin Pract. 2015 Jun 30;2(3):289-290. doi: 10.1002/mdc3.12194. eCollection 2015 Sep.
2
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.儿童期起病的溶酶体贮积病中的运动障碍谱
Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10.
3
Expanding the spectrum of mutations in Indian patients with Tay-Sachs disease.拓展印度泰-萨克斯病患者的突变谱。
Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014.
4
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.在印度患有泰萨二氏病的儿童中鉴定 HEXA 基因突变。
PLoS One. 2012;7(6):e39122. doi: 10.1371/journal.pone.0039122. Epub 2012 Jun 18.
5
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.
6
Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.
Ann Neurol. 1984 Apr;15(4):348-52. doi: 10.1002/ana.410150408.
7
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.表现为青少年进行性肌张力障碍的己糖胺酶A缺乏症。
J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):446-7. doi: 10.1136/jnnp.51.3.446.
8
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.青少年GM2神经节苷脂沉积症所致进行性肌张力障碍
Mov Disord. 1992;7(1):64-7. doi: 10.1002/mds.870070113.

Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay-Sachs Disease.

作者信息

Kaur Jasmine, Bhanudeep Singanamalla, Suresh Ramprabhu G, Saini Arushi G, Bhatia Vikas

机构信息

Employee's State Insurance, Postgraduate Institute of Medical Science and Research, Basaidarpur, New Delhi, India.

Department of Pediatrics, KIMS Cuddles, Kondapur, Hyderabad, Telangana, India.

出版信息

Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):324-325. doi: 10.4103/aian.aian_419_21. Epub 2022 May 17.

DOI:10.4103/aian.aian_419_21
PMID:35693683
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9175441/
Abstract
摘要