C Ronald Scott

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint The genetic tyrosinemias
    C Ronald Scott
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet C Semin Med Genet 142:121-6. 2006
  2. pmc Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
    C Ronald Scott
    Department of Pediatrics, University of Washington, Seattle, WA 98195 6320, USA
    J Pediatr 163:498-503. 2013
  3. pmc A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler)
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 56:1854-61. 2010
  4. pmc Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases
    Zdenek Spacil
    Department of Chemistry, University of Washington, Seattle, Washington 98195, USA
    Anal Chem 83:4822-8. 2011
  5. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome)
    Brian J Wolfe
    Department of Chemistry, University of Washington, Seattle, Washington 98195 1700, USA
    Anal Chem 83:1152-6. 2011
  6. pmc Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Bioorg Med Chem Lett 20:5994-6. 2010
  7. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA
    Tanvir Khaliq
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 57:128-31. 2011
  8. pmc Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)
    Ding Wang
    Department of Chemistry, University of Washington, Seattle, Washington, USA
    Clin Chem 53:137-40. 2007
  9. ncbi request reprint Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    Ding Wang
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 51:898-900. 2005
  10. pmc New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry
    Brian J Wolfe
    Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195 1700, USA
    Bioconjug Chem 23:557-64. 2012

Collaborators

  • Nestor A Chamoles
  • Frantisek Turecek
  • Michael H Gelb
  • Martin Sadilek
  • Trisha A Duffey
  • Zdenek Spacil
  • Mariana Barcenas
  • Brian J Wolfe
  • Yijun Li
  • Yuesong Wang
  • Ding Wang
  • Tanvir Khaliq
  • Sophie Blanchard
  • Naveen Kumar Chennamaneni
  • Susan Elliott
  • John R Choiniere
  • Yuko Ogata
  • Arun Babu Kumar
  • Teryn R Suhr
  • Haribabu Tatipaka
  • Tim Kim
  • Rhona Jack
  • Jerry N Thompson
  • Farideh Ghomashchi
  • Cynthia A Abam
  • Steven L Reeber
  • Garland Bellamy
  • Angela C Fox
  • Michael Glass
  • Paula Gatti
  • Tim Wood
  • Bhramara Eadala
  • Knut Brockmann
  • Ahmad Ghavami
  • B Mario Pinto
  • Hudson H Freeze
  • Louis Scampavia
  • Jaromir Ruzicka

Detail Information

Publications23

  1. ncbi request reprint The genetic tyrosinemias
    C Ronald Scott
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet C Semin Med Genet 142:121-6. 2006
    ..Therapy consists of a diet low in phenylalanine and tyrosine for each of the tyrosinemias and 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) for tyrosinemia Type I...
  2. pmc Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
    C Ronald Scott
    Department of Pediatrics, University of Washington, Seattle, WA 98195 6320, USA
    J Pediatr 163:498-503. 2013
    ....
  3. pmc A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler)
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 56:1854-61. 2010
    ....
  4. pmc Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases
    Zdenek Spacil
    Department of Chemistry, University of Washington, Seattle, Washington 98195, USA
    Anal Chem 83:4822-8. 2011
    ..The individual merits of the new methods are discussed to present an evaluated alternative approach to high-throughput analysis in newborn screening laboratories...
  5. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome)
    Brian J Wolfe
    Department of Chemistry, University of Washington, Seattle, Washington 98195 1700, USA
    Anal Chem 83:1152-6. 2011
    ..17-0.52 (mean 0.29) μmol/(h L of blood). The assay shows low blank activity, 0.15 ± 0.03 μmol/(h L of blood). The within-assay coefficient of variation (CV) was 3.1% while the interassay CV was 15%...
  6. pmc Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Bioorg Med Chem Lett 20:5994-6. 2010
    ..The latter result shows that the designed substrates are highly selective for the respective enzymes...
  7. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA
    Tanvir Khaliq
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 57:128-31. 2011
    ..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...
  8. pmc Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)
    Ding Wang
    Department of Chemistry, University of Washington, Seattle, Washington, USA
    Clin Chem 53:137-40. 2007
    ..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...
  9. ncbi request reprint Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    Ding Wang
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 51:898-900. 2005
  10. pmc New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry
    Brian J Wolfe
    Department of Chemistry, Bagley Hall, University of Washington, Box 351700, Seattle, Washington 98195 1700, USA
    Bioconjug Chem 23:557-64. 2012
    ....
  11. pmc Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase
    Yuesong Wang
    Departments of Chemistry, Pediatrics, and Biochemistry, University of Washington, Seattle, Washington 98195, USA
    Anal Chem 80:2606-11. 2008
    ..0041 +/- 0.0002 microM/(min.mg of hemoglobin). The coefficient of variation of PBGD activity among several unaffected individuals (12%) is significantly lower than the decrease due to acute intermittent porphyria (50%)...
  12. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I
    Sophie Blanchard
    Department of Chemistry, University of Washington, Seattle, Washington 98195, USA
    Clin Chem 54:2067-70. 2008
    ..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...
  13. pmc Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    Yijun Li
    Department of Chemistry, University of Washington, Seattle 98195, USA
    Clin Chem 50:1785-96. 2004
    ..We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme source...
  14. doi request reprint High-throughput assay of 9 lysosomal enzymes for newborn screening
    Zdenek Spacil
    Department of Chemistry, University of Washington, Seattle, WA, USA
    Clin Chem 59:502-11. 2013
    ..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)...
  15. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    Trisha A Duffey
    Department of Chemistry, University of Washington, Seattle, Washington 98195, United States
    Anal Chem 82:9587-91. 2010
    ..4 μmol/(h L of blood), and an MPS-VI patient that had an activity of 0.12 μmol/(h L of blood). Results are also reported for the aryl sulfatase B assay in DBS from groups of normal felines and felines affected with MPS-VI...
  16. pmc Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry
    John R Choiniere
    Department of Chemistry, University of Washington, Seattle, Washington 98195 1700, USA
    Anal Chem 82:6730-6. 2010
    ..The assay shows good reproducibility and low background, requires a simple workup, and uses a commercially available substrate...
  17. pmc Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry
    Naveen Kumar Chennamaneni
    Departments of Chemistry, Pediatrics, and Biochemistry, University of Washington, Seattle, Washington 98195 1700, United States
    Anal Chem 86:4508-14. 2014
    ..Also, the ratio of assay signal to that measured in the absence of blood (background) is superior to all previously reported mucopolysaccharidosis types I, II, and VI assays. ..
  18. ncbi request reprint Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease
    Yijun Li
    Department of Chemistry, University of Washington, Seattle 98195, USA
    Clin Chem 50:638-40. 2004
  19. pmc Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase
    Yuesong Wang
    Departments of Chemistry, Pediatrics, and Biochemistry, University of Washington, Seattle, Washington 98195 1700, USA
    Anal Chem 80:2599-605. 2008
    ..066 +/- 0.009 microM). The assays show good reproducibility, use simple workup by liquid-liquid extraction of enzymatic products, and employ commercially available substrates and internal standards...
  20. pmc Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry
    Mariana Barcenas
    Departments of Chemistry, University of Washington, Seattle, WA 98195, United States
    Clin Chim Acta 433:39-43. 2014
    ....
  21. ncbi request reprint Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening
    Frantisek Turecek
    Department of Chemistry, University of Washington, Seattle, USA
    Methods Mol Biol 359:143-57. 2007
    ..The assays have the potential of being used for large-scale screening of newborns for the detection of inborn errors of metabolism...
  22. ncbi request reprint Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib
    Yijun Li
    Department of Chemistry, University of Washington, Seattle, Washington 98195, USA
    Anal Chem 75:42-8. 2003
    ..The affinity purification procedure is fully automated, and the mass spectrometric analysis is multiplexed in a fashion that is suitable for high-throughput applications...
  23. ncbi request reprint Automated affinity capture-release of biotin-containing conjugates using a lab-on-valve apparatus coupled to UV/visible and electrospray ionization mass spectrometry
    Yuko Ogata
    Department of Chemistry, University of Washington, Seattle 98195 1700, USA
    Anal Chem 74:4702-8. 2002
    ..Fast analysis in 4.5 min/full cycle and robust operation in 60 repetitive analyses are demonstrated that are promising for transfer of the LOV-ESI-MS technology into clinical practice...