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Molecular Genetics and Metabolism
|
November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria
Gisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Journal of Inherited Metabolic Disease
|
March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease
Coleman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 10, 2017
Precision newborn screening for lysosomal disorders
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 28) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 28 results.
Molecular Genetics and Metabolism
|
November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria
Gisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Journal of Inherited Metabolic Disease
|
March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease
Coleman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 10, 2017
Precision newborn screening for lysosomal disorders
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
Page
of 3