Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis | Zendy

Liu Yang | Zendy; Fan Yi | Zendy; Arun Kumar | Zendy; Naveen Kumar Chennamaneni | Zendy; Xinying Hong | Zendy; C. Ronald Scott | Zendy; Michael H. Gelb | Zendy; František Tureček | Zendy

Open Access

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Author(s) -

Liu Yang,

Fan Yi,

Arun Kumar,

Naveen Kumar Chennamaneni,

Xinying Hong,

C. Ronald Scott,

Michael H. Gelb,

František Tureček

Publication year - 2017

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.2016.269167

Subject(s) - chemistry , multiplex , lysosomal storage disease , newborn screening , enzyme replacement therapy , tandem mass spectrometry , sulfatase , dried blood spot , mucopolysaccharidosis , enzyme , lysosomal storage disorders , chromatography , mucopolysaccharidosis i , neuronal ceroid lipofuscinosis , hunter syndrome , mucolipidosis , glucuronidase , mucopolysaccharidosis type ii , biochemistry , mass spectrometry , medicine , biology , bioinformatics , disease , gene

We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL).

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