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Clinical Chemistry
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March 15, 2015
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry
Farideh Ghomashchi, Mariana Barcenas, Frantisek Turecek, et al.
Clinical Chemistry
|
December 2, 2008
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I
Sophie Blanchard, Martin Sadilek, C Ronald Scott, et al.
Clinical Chemistry
|
January 18, 2018
Specific Substrate for the Assay of Lysosomal Acid Lipase
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, et al.
Analytical Chemistry
|
October 22, 2010
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, Martin Sadilek, C Ronald Scott, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 28, 2013
Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry
Mariana Barcenas, Teryn R Suhr, C Ronald Scott, et al.
Bioorganic & Medicinal Chemistry Letters
|
September 14, 2010
Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes
Trisha A Duffey, Tanvir Khaliq, C Ronald Scott, et al.
Analytical Chemistry
|
February 26, 2008
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase
Yuesong Wang, Paula Gatti, Martin Sadílek, et al.
Clinical Chemistry
|
November 4, 2006
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)
Ding Wang, Tim Wood, Martin Sadilek, et al.
Analytical Chemistry
|
September 28, 2002
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, Louis Scampavia, Jaromír Růzicka, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2004
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family
A Shamseddine, A Taher, S Fakhani, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 81) with videos related to
Sort By:
Page
of 9
Clinical Chemistry
|
March 15, 2015
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry
Farideh Ghomashchi, Mariana Barcenas, Frantisek Turecek, et al.
Clinical Chemistry
|
December 2, 2008
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I
Sophie Blanchard, Martin Sadilek, C Ronald Scott, et al.
Clinical Chemistry
|
January 18, 2018
Specific Substrate for the Assay of Lysosomal Acid Lipase
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, et al.
Analytical Chemistry
|
October 22, 2010
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, Martin Sadilek, C Ronald Scott, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 28, 2013
Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry
Mariana Barcenas, Teryn R Suhr, C Ronald Scott, et al.
Bioorganic & Medicinal Chemistry Letters
|
September 14, 2010
Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes
Trisha A Duffey, Tanvir Khaliq, C Ronald Scott, et al.
Analytical Chemistry
|
February 26, 2008
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase
Yuesong Wang, Paula Gatti, Martin Sadílek, et al.
Clinical Chemistry
|
November 4, 2006
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)
Ding Wang, Tim Wood, Martin Sadilek, et al.
Analytical Chemistry
|
September 28, 2002
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, Louis Scampavia, Jaromír Růzicka, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2004
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family
A Shamseddine, A Taher, S Fakhani, et al.
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of 9