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C Ronald Scott

Showing results (31-40 of 81) with videos related to

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Clinical Chemistry|January 15, 2013
High-throughput assay of 9 lysosomal enzymes for newborn screeningZdenek Spacil, Haribabu Tatipaka, Mariana Barcenas, et al.
The Journal of Biological Chemistry|November 19, 2005
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutationsBenjamin Liou, Andrzej Kazimierczuk, Min Zhang, et al.
Analytical Chemistry|May 10, 2011
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 diseasesZdeněk Spáčil, Susan Elliott, Steven L Reeber, et al.
Analytical Chemistry|January 18, 2003
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 IbYijun Li, Yuko Ogata, Hudson H Freeze, et al.
Analytical Chemistry|January 4, 2011
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, Sophie Blanchard, Martin Sadilek, et al.
Analytical Chemistry|July 15, 2014
Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newbornsMariana Barcenas, Chang Xue, Tatyana Marushchak-Vlaskin, et al.
Journal of Magnetic Resonance Imaging : JMRI|May 29, 2015
Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imagingHunter R Underhill, Katie Golden-Grant, Lauren T Garrett, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlationAriel Brautbar, Deborah Elstein, Aya Abrahamov, et al.
Clinical Chemistry|February 8, 2005
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newbornsDing Wang, Bhramara Eadala, Martin Sadilek, et al.
American Journal of Medical Genetics|May 7, 2002
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)Olaf A F Bodamer, Heather J Church, Alan Cooper, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
Clinical Chemistry|January 15, 2013
High-throughput assay of 9 lysosomal enzymes for newborn screeningZdenek Spacil, Haribabu Tatipaka, Mariana Barcenas, et al.
The Journal of Biological Chemistry|November 19, 2005
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutationsBenjamin Liou, Andrzej Kazimierczuk, Min Zhang, et al.
Analytical Chemistry|May 10, 2011
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 diseasesZdeněk Spáčil, Susan Elliott, Steven L Reeber, et al.
Analytical Chemistry|January 18, 2003
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 IbYijun Li, Yuko Ogata, Hudson H Freeze, et al.
Analytical Chemistry|January 4, 2011
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, Sophie Blanchard, Martin Sadilek, et al.
Analytical Chemistry|July 15, 2014
Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newbornsMariana Barcenas, Chang Xue, Tatyana Marushchak-Vlaskin, et al.
Journal of Magnetic Resonance Imaging : JMRI|May 29, 2015
Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imagingHunter R Underhill, Katie Golden-Grant, Lauren T Garrett, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlationAriel Brautbar, Deborah Elstein, Aya Abrahamov, et al.
Clinical Chemistry|February 8, 2005
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newbornsDing Wang, Bhramara Eadala, Martin Sadilek, et al.
American Journal of Medical Genetics|May 7, 2002
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)Olaf A F Bodamer, Heather J Church, Alan Cooper, et al.
Pageof 9