A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening.

Yu, Seok-Ho; Pollard, Laura; Wood, Tim; Flanagan-Steet, Heather; Steet, Richard

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

Yu, Seok-Ho; Pollard, Laura; Wood, Tim; Flanagan-Steet, Heather; Steet, Richard.

Afiliação

Yu SH; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Pollard L; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Wood T; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Flanagan-Steet H; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Steet R; Greenwood Genetic Center, Greenwood, SC 29646, USA.

Int J Neonatal Screen ; 6(4)2020 Nov 12.

Article em En | MEDLINE | ID: mdl-33198351

Palavras-chave

IDUA; mucopolysaccharidosis; newborn screening; pseudodeficiency; α-iduronidase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2020 Tipo de documento: Article

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