Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.

Cao, Lan-Xiao; Liu, Ying; Song, Zhao-Jun; Zhang, Bao-Rong; Long, Wen-Ying; Zhao, Guo-Hua

Cao, Lan-Xiao; Liu, Ying; Song, Zhao-Jun; Zhang, Bao-Rong; Long, Wen-Ying; Zhao, Guo-Hua.

Afiliação

Cao LX; Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China.
Liu Y; Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China.
Song ZJ; Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China.
Zhang BR; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
Long WY; Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China.
Zhao GH; Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu 322000, Zhejiang Province, China. gzhao@zju.edu.cn.

World J Clin Cases ; 9(3): 623-631, 2021 Jan 26.

Article em En | MEDLINE | ID: mdl-33553400

Palavras-chave

Ataxia; Case report; Mucolipidoses; Myoclonus; Neuraminidase 1; Sialidosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: World J Clin Cases Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

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