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Piero Rinaldo

Showing results (51-60 of 100) with videos related to

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Clinical Chemistry|January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
Plos Genetics|August 27, 2005
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceRavi J Tolwani, Doug A Hamm, Liqun Tian, et al.
Clinical Chemistry|July 4, 2009
National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summaryDennis J Dietzen, Piero Rinaldo, Ronald J Whitley, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
JIMD Reports|February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrationsFlorina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
Gastroenterology|May 12, 2005
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistanceJamal A Ibdah, Peter Perlegas, Yiwen Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2010
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and childrenNed Calonge, Nancy S Green, Piero Rinaldo, et al.
Molecular Genetics and Metabolism|December 8, 2014
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophyColeman T Turgeon, Ann B Moser, Lars Mørkrid, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Clinical Chemistry|December 6, 2003
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometryJean M Lacey, Carla Z Minutti, Mark J Magera, et al.
Pageof 10

Showing results (51-60 of 100) with videos related to

Sort By:
Pageof 10
Clinical Chemistry|January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
Plos Genetics|August 27, 2005
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceRavi J Tolwani, Doug A Hamm, Liqun Tian, et al.
Clinical Chemistry|July 4, 2009
National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summaryDennis J Dietzen, Piero Rinaldo, Ronald J Whitley, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
JIMD Reports|February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrationsFlorina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
Gastroenterology|May 12, 2005
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistanceJamal A Ibdah, Peter Perlegas, Yiwen Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2010
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and childrenNed Calonge, Nancy S Green, Piero Rinaldo, et al.
Molecular Genetics and Metabolism|December 8, 2014
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophyColeman T Turgeon, Ann B Moser, Lars Mørkrid, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Clinical Chemistry|December 6, 2003
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometryJean M Lacey, Carla Z Minutti, Mark J Magera, et al.
Pageof 10