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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2008
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
David Bodensteiner, C Ronald Scott, Katherine B Sims, et al.
Analytical Chemistry
|
April 4, 2014
Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry
Naveen Kumar Chennamaneni, Arun Babu Kumar, Mariana Barcenas, et al.
Clinical Chemistry
|
August 5, 2004
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
Yijun Li, C Ronald Scott, Nestor A Chamoles, et al.
The Journal of Pediatrics
|
March 8, 2013
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
C Ronald Scott, Susan Elliott, Norman Buroker, et al.
JIMD Reports
|
November 22, 2015
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Heather M Byers, Robin L Bennett, Emily A Malouf, et al.
JIMD Reports
|
February 19, 2016
Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Heather M Byers, Robin L Bennett, Emily A Malouf, et al.
Clinical Chemistry
|
October 14, 2010
A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler)
Trisha A Duffey, Garland Bellamy, Susan Elliott, et al.
Plos One
|
December 20, 2016
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy
Brent Fall, C Ronald Scott, Michael Mauer, et al.
Clinical Chemistry
|
April 22, 2017
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis
Yang Liu, Fan Yi, Arun Babu Kumar, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 19, 2015
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
Arun Babu Kumar, Zdenek Spacil, Farideh Ghomashchi, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 81) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2008
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
David Bodensteiner, C Ronald Scott, Katherine B Sims, et al.
Analytical Chemistry
|
April 4, 2014
Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry
Naveen Kumar Chennamaneni, Arun Babu Kumar, Mariana Barcenas, et al.
Clinical Chemistry
|
August 5, 2004
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
Yijun Li, C Ronald Scott, Nestor A Chamoles, et al.
The Journal of Pediatrics
|
March 8, 2013
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
C Ronald Scott, Susan Elliott, Norman Buroker, et al.
JIMD Reports
|
November 22, 2015
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Heather M Byers, Robin L Bennett, Emily A Malouf, et al.
JIMD Reports
|
February 19, 2016
Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
Heather M Byers, Robin L Bennett, Emily A Malouf, et al.
Clinical Chemistry
|
October 14, 2010
A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler)
Trisha A Duffey, Garland Bellamy, Susan Elliott, et al.
Plos One
|
December 20, 2016
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy
Brent Fall, C Ronald Scott, Michael Mauer, et al.
Clinical Chemistry
|
April 22, 2017
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis
Yang Liu, Fan Yi, Arun Babu Kumar, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 19, 2015
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
Arun Babu Kumar, Zdenek Spacil, Farideh Ghomashchi, et al.
Page
of 9