Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
نویسندگان
چکیده
Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe Disease, Yijun Li, Knut Brockmann, Frantisek Turecek, C. Ronald Scott, and Michael H. Gelb (Departments of 1 Chemistry, 3 Pediatrics, and 4 Biochemistry, University of Washington, Seattle, WA; 2 Department of Pediatrics and Neuropediatrics, Children’s Hospital, University of Goettingen, Goettingen, Germany; * address correspondence to this author at: Departments of Chemistry and Biochemistry, University of Washington, Campus Box 351700, Seattle, WA 98195; fax 206-685-8665, e-mail [email protected])
منابع مشابه
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
BACKGROUND Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme sou...
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BACKGROUND A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase. METHODS We synthesized a new iduronate 2-sulfatase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an interna...
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References 1. Carpenter KH, Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 2002;322:1–10. 2. Carreiro-Lewandowski E. Newborn screening: an overview. Clin Lab Sci 2002;15:229–30. 3. Jones PM, Bennett MJ. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 2002;...
متن کاملHigh-throughput assay of 9 lysosomal enzymes for newborn screening.
BACKGROUND 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). METHODS The assay of 9 enzymes ...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 50 3 شماره
صفحات -
تاریخ انتشار 2004