Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots:Application to Screening Newborns for Mucopolysaccharidosis IVA | Zendy

Tanvir Khaliq | Zendy; Martin Sadı́lek | Zendy; C. Ronald Scott | Zendy; František Tureček | Zendy; Michael H. Gelb | Zendy

Open Access

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots:Application to Screening Newborns for Mucopolysaccharidosis IVA

Author(s) -

Tanvir Khaliq,

Martin Sadı́lek,

C. Ronald Scott,

František Tureček,

Michael H. Gelb

Publication year - 2010

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.2010.149880

Subject(s) - dried blood spot , mucopolysaccharidosis , newborn screening , chromatography , enzyme replacement therapy , mucopolysaccharidosis i , tandem mass spectrometry , chemistry , mass spectrometry , multiplex , dried blood , sulfatase , enzyme , mucopolysaccharidosis type ii , enzyme assay , biochemistry , medicine , biology , bioinformatics , disease

Treatments are being developed for an increasing number of mucopolysaccharidoses, and early diagnosis is expected to be necessary to maximize the benefits of therapy. Therefore, we developed an assay for N-acetylgalactosamine-6-sulfate sulfatase (GALNS), the enzyme deficient in mucopolysaccharidosis IVA (Morquio A syndrome), that is applicable for clinical diagnosis.

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