Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.

Zhao, Xiao-Ying; Qiao, Guang-Ming; Liu, Fang

Zhao, Xiao-Ying; Qiao, Guang-Ming; Liu, Fang.

Afiliação

Zhao XY; Department of Pediatrics, Hebei Medical University, Shijiazhuang 050000, Hebei, China.
Qiao GM; Department of Hematology, Children's Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang 050000, Hebei, China.
Liu F; Department of Pediatrics, Hebei Medical University, Shijiazhuang 050000, Hebei, China; Department of Pediatrics, NICU, the 980th Hospital of the People's Liberation Army Joint Service Support Force, Shijiazhuang 050082, Hebei, China. Electronic address: liufanglafy@126.com.

Clin Chim Acta ; 523: 386-394, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34670126

Assuntos

Glicoproteínas/genética; Iduronato Sulfatase; Mucopolissacaridose II; Povo Asiático/genética; Criança; China; Humanos; Iduronato Sulfatase/genética; Mucopolissacaridose II/genética; Mutação; Estudos Retrospectivos

Palavras-chave

Clinical features; Genetic analysis; Hunter syndrome; IDS novel mutations; Mucopolysaccharidosis type II

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Iduronato Sulfatase Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: Asia Idioma: En Revista: Clin Chim Acta Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Holanda

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