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Piero Rinaldo

Showing results (61-70 of 100) with videos related to

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Clinical Chemistry|July 11, 2013
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole bloodDevin Oglesbee, Charles Kroll, Oleksandr Gakh, et al.
Clinical Chemistry|September 3, 2010
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometryColeman T Turgeon, Mark J Magera, Carla D Cuthbert, et al.
Metabolic Brain Disease|April 20, 2020
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesTrevor Kirby, Dana C Walters, Madalyn Brown, et al.
Clinical Chemistry|September 6, 2005
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblastsKaren A Kramer, Devin Oglesbee, Stacy J Hartman, et al.
Molecular Genetics and Metabolism|April 29, 2006
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson diseaseCharles A Kroll, Matt J Ferber, Brian D Dawson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe diseaseSilvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.
Metabolic Brain Disease|March 16, 2020
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesTrevor Kirby, Dana C Walters, Madalyn Brown, et al.
Orphanet Journal of Rare Diseases|September 24, 2020
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiencyTrevor Kirby, Dana C Walters, Xutong Shi, et al.
Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.
Pediatrics|July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryDietrich Matern, Miao He, Susan A Berry, et al.
Pageof 10

Showing results (61-70 of 100) with videos related to

Sort By:
Pageof 10
Clinical Chemistry|July 11, 2013
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole bloodDevin Oglesbee, Charles Kroll, Oleksandr Gakh, et al.
Clinical Chemistry|September 3, 2010
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometryColeman T Turgeon, Mark J Magera, Carla D Cuthbert, et al.
Metabolic Brain Disease|April 20, 2020
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesTrevor Kirby, Dana C Walters, Madalyn Brown, et al.
Clinical Chemistry|September 6, 2005
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblastsKaren A Kramer, Devin Oglesbee, Stacy J Hartman, et al.
Molecular Genetics and Metabolism|April 29, 2006
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson diseaseCharles A Kroll, Matt J Ferber, Brian D Dawson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe diseaseSilvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.
Metabolic Brain Disease|March 16, 2020
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesTrevor Kirby, Dana C Walters, Madalyn Brown, et al.
Orphanet Journal of Rare Diseases|September 24, 2020
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiencyTrevor Kirby, Dana C Walters, Xutong Shi, et al.
Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.
Pediatrics|July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometryDietrich Matern, Miao He, Susan A Berry, et al.
Pageof 10