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C Ronald Scott

Showing results (11-20 of 81) with videos related to

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Journal of Pediatric Gastroenterology and Nutrition|October 30, 2012
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSIDStefanie Uhrich, Zaining Wu, Jie-Yu Huang, et al.
Analytical Chemistry|February 26, 2008
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminaseYuesong Wang, C Ronald Scott, Michael H Gelb, et al.
Molecular Genetics and Metabolism|April 23, 2018
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkersXinying Hong, Arun Babu Kumar, C Ronald Scott, et al.
Analytical Chemistry|June 30, 2010
Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometryJohn R Choiniere, C Ronald Scott, Michael H Gelb, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDsMichael H Gelb, C Ronald Scott, Frantisek Turecek, et al.
Genetic Testing|April 29, 2005
Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotypeDeborah Elstein, C Ronald Scott, Marsha Zeigler, et al.
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 18, 2008
Waiving informed consent in newborn screening research: balancing social value and respectBeth A Tarini, Wylie Burke, C Ronald Scott, et al.
Clinical Chemistry|October 30, 2010
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVATanvir Khaliq, Martin Sadilek, C Ronald Scott, et al.
Clinical Chemistry|February 26, 2004
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe diseaseYijun Li, Knut Brockmann, Frantisek Turecek, et al.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Journal of Pediatric Gastroenterology and Nutrition|October 30, 2012
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSIDStefanie Uhrich, Zaining Wu, Jie-Yu Huang, et al.
Analytical Chemistry|February 26, 2008
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminaseYuesong Wang, C Ronald Scott, Michael H Gelb, et al.
Molecular Genetics and Metabolism|April 23, 2018
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkersXinying Hong, Arun Babu Kumar, C Ronald Scott, et al.
Analytical Chemistry|June 30, 2010
Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometryJohn R Choiniere, C Ronald Scott, Michael H Gelb, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDsMichael H Gelb, C Ronald Scott, Frantisek Turecek, et al.
Genetic Testing|April 29, 2005
Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotypeDeborah Elstein, C Ronald Scott, Marsha Zeigler, et al.
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 18, 2008
Waiving informed consent in newborn screening research: balancing social value and respectBeth A Tarini, Wylie Burke, C Ronald Scott, et al.
Clinical Chemistry|October 30, 2010
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVATanvir Khaliq, Martin Sadilek, C Ronald Scott, et al.
Clinical Chemistry|February 26, 2004
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe diseaseYijun Li, Knut Brockmann, Frantisek Turecek, et al.
Pageof 9