Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI | Zendy

Arun Kumar | Zendy; Sophia Masi | Zendy; Farideh Ghomashchi | Zendy; Naveen Kumar Chennamaneni | Zendy; Makoto Ito | Zendy; C. Ronald Scott | Zendy; František Tureček | Zendy; Michael H. Gelb | Zendy; Zdeněk Spáčil | Zendy

Open Access

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI

Author(s) -

Arun Kumar,

Sophia Masi,

Farideh Ghomashchi,

Naveen Kumar Chennamaneni,

Makoto Ito,

C. Ronald Scott,

František Tureček,

Michael H. Gelb,

Zdeněk Spáčil

Publication year - 2015

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.2015.242560

Subject(s) - newborn screening , chemistry , tandem mass spectrometry , multiplex , chromatography , enzyme , reference range , lysosomal storage disorders , mass spectrometry , population , lysosomal storage disease , biochemistry , medicine , bioinformatics , biology , environmental health

There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical outcome. Assays of lysosomal enzymes with high analytical range (ratio of assay response from the enzymatic reaction divided by the assay response due to nonenzymatic processes) are desirable because they are predicted to lead to a lower rate of false positives in population screening and to more accurate diagnoses.

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