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Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.

作者信息

Armstrong-Javors Amy, Chu Catherine J

机构信息

From the Department of Neurology, Division of Child Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.

出版信息

Neurology. 2014 Oct 21;83(17):e166-8. doi: 10.1212/WNL.0000000000000912.

DOI:10.1212/WNL.0000000000000912
PMID:25332452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4222851/
Abstract
摘要

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2
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3
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本文引用的文献

1
Mongolian spots are not always a benign sign.蒙古斑并非总是良性体征。
J Pediatr. 2013 May;162(5):1070. doi: 10.1016/j.jpeds.2012.12.044. Epub 2013 Jan 30.
2
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.伴侣蛋白疗法最新进展:法布里病、GM1神经节苷脂贮积症和戈谢病。
Brain Dev. 2013 Jun;35(6):515-23. doi: 10.1016/j.braindev.2012.12.002. Epub 2013 Jan 3.
3
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.与新生儿期弥漫性瘀斑和蒙古斑相关的GM1神经节苷脂贮积症。
Indian J Dermatol. 2011 Jan;56(1):98-100. doi: 10.4103/0019-5154.77567.
4
Child with Mongolian spots and dysostosis multiplex.患有蒙古斑和多发性骨发育异常的儿童。
Indian J Hum Genet. 2009 Jan;15(1):38-9. doi: 10.4103/0971-6866.50870.
5
Structural bases of GM1 gangliosidosis and Morquio B disease.GM1神经节苷脂贮积症和莫尔基奥B病的结构基础。
J Hum Genet. 2009 Sep;54(9):510-5. doi: 10.1038/jhg.2009.70. Epub 2009 Jul 31.
6
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.GM1神经节苷脂贮积症:临床、分子及治疗方面的综述
Mol Genet Metab. 2008 Aug;94(4):391-396. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3.
7
Dermal melanocytosis associated with GM1-gangliosidosis type 1.与1型GM1神经节苷脂贮积症相关的皮肤黑素细胞增多症。
Acta Derm Venereol. 2006;86(2):156-8. doi: 10.2340/00015555-0022.
8
Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis.纠正β-半乳糖苷酶活性的骨髓移植对青少年GM1神经节苷脂贮积症的神经学转归无影响。
J Inherit Metab Dis. 2005;28(5):797-8. doi: 10.1007/s10545-005-0089-7.
9
The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.婴儿GM1神经节苷脂沉积症的白质脑病:少突胶质细胞丢失与轴突功能障碍。
Acta Neuropathol. 2004 Jun;107(6):539-45. doi: 10.1007/s00401-004-0848-9. Epub 2004 Mar 20.
10
Generalized gangliosidosis: beta-galactosidase deficiency.全身性神经节苷脂沉积症:β-半乳糖苷酶缺乏症。
Science. 1968 May 31;160(3831):1002-4. doi: 10.1126/science.160.3831.1002.