Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

نویسندگان

  • Yijun Li
  • Knut Brockmann
  • Frantisek Turecek
  • C Ronald Scott
  • Michael H Gelb
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])

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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...

متن کامل

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).

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...

متن کامل

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.

BACKGROUND Treatments now available for mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, alpha-L-iduronidase. METHODS We synthesized a new alpha-L-iduronidase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an inter...

متن کامل

Comprehensive Mu-opioid-receptor Genotyping

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 کامل

High-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 ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Clinical chemistry

دوره 50 3  شماره 

صفحات  -

تاریخ انتشار 2004