High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening | Zendy

Zdeněk Spáčil | Zendy; Haribabu Tatipaka | Zendy; Mariana Bárcenas | Zendy; C. Ronald Scott | Zendy; František Tureček | Zendy; Michael H. Gelb | Zendy

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High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening

Author(s) -

Zdeněk Spáčil,

Haribabu Tatipaka,

Mariana Bárcenas,

C. Ronald Scott,

František Tureček,

Michael H. Gelb

Publication year - 2013

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.2012.189936

Subject(s) - chromatography , multiplex , tandem mass spectrometry , newborn screening , chemistry , dried blood spot , high performance liquid chromatography , selected reaction monitoring , mass spectrometry , enzyme , liquid chromatography–mass spectrometry , biochemistry , biology , bioinformatics

There is interest in newborn screening of lysosomal storage diseases (LSDs) because of the availability of treatments. Pilot studies have used tandem mass spectrometry with flow injection of samples to achieve multiplex detection of enzyme products. We report a multiplexing method of 9 enzymatic assays that uses HPLC-tandem mass spectrometry (MS/MS).

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