Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening | Zendy

Yijun Li | Zendy; C. Ronald Scott | Zendy; Néstor Chamoles | Zendy; Ahmad Ghavami | Zendy; Bernardine M. Pinto | Zendy; František Tureček | Zendy; Michael H. Gelb | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Author(s) -

Yijun Li,

C. Ronald Scott,

Néstor Chamoles,

Ahmad Ghavami,

Bernardine M. Pinto,

František Tureček,

Michael H. Gelb

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2004.035907

Subject(s) - dried blood spot , spots , newborn screening , enzyme , dried blood , multiplex , enzyme replacement therapy , lysosomal storage disease , fabry disease , chemistry , chromatography , biochemistry , microbiology and biotechnology , medicine , biology , disease , pathology , bioinformatics

Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme source.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research