Simplified Newborn Screening Protocol for Lysosomal Storage Disorders | Zendy

Thomas F. Metz | Zendy; Thomas P. Mechtler | Zendy; Joseph J. Orsini | Zendy; Monica Martin | Zendy; Bori Shushan | Zendy; Joseph L. Herman | Zendy; Rene Ratschmann | Zendy; Chike Bellarmine Item | Zendy; Berthold Streubel | Zendy; K. Herkner | Zendy; David C. Kasper | Zendy

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Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

Author(s) -

Thomas F. Metz,

Thomas P. Mechtler,

Joseph J. Orsini,

Monica Martin,

Bori Shushan,

Joseph L. Herman,

Rene Ratschmann,

Chike Bellarmine Item,

Berthold Streubel,

K. Herkner,

David C. Kasper

Publication year - 2011

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.2011.164640

Subject(s) - lysosomal storage disorders , newborn screening , protocol (science) , medicine , chemistry , pediatrics , pathology , disease , alternative medicine

Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement, stem cell transplantation, and substrate reduction therapy. We developed a high-throughput protocol that simplifies analytical challenges such as complex sample preparation and potential interference from excess residual substrate associated with previously reported assays.

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