颈椎减压术后黏多糖贮积症 IVA 型患者发生的脊髓远程损伤。
Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression.
机构信息
From the Instituto da Criança (F.B., C.A.K.), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC FMUSP) (F.B., C.A.K., P.R.A., A.C.C.C.), Brazil.
出版信息
Neurology. 2014 Apr 15;82(15):1382-3. doi: 10.1212/WNL.0000000000000341.
PMID:24733857
Abstract
Morquio A syndrome (Online Mendelian Inheritance in Man #253000) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase encoded by the GALNS gene. Key clinical features are skeletal dysplasia and short stature.
摘要
黏多糖贮积症 A 型（Online Mendelian Inheritance in Man #253000）是一种溶酶体贮积病，由编码 GALNS 基因的 N-乙酰半乳糖胺-6-硫酸酯酶缺乏引起。主要临床特征为骨骼发育不良和身材矮小。
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