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Piero Rinaldo

Showing results (11-20 of 100) with videos related to

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International Journal of Neonatal Screening|October 30, 2020
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in CaliforniaHao Tang, Jamie Matteson, Piero Rinaldo, et al.
Seminars in Perinatology|April 21, 2015
Newborn screening for lysosomal storage disordersDietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Molecular Genetics and Metabolism|November 9, 2019
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1<sup>-/-</sup> mice, a model of succinic semialdehyde dehydrogenase deficiencyMadalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.
Molecular Genetics and Metabolism|September 10, 2005
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transportChantal F Morel, David Watkins, Patrick Scott, et al.
Clinical Chemistry|October 31, 2002
Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urineCharles A Kroll, Mark J Magera, Janice K Helgeson, et al.
Molecular Genetics and Metabolism|December 14, 2004
Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Journal of Child Neurology|February 25, 2003
Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi GroupNeil R M Buist, Olivier Dulac, Teodoro Bottiglieri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2004
Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003Robert E Grier, William A Gahl, Tina Cowan, et al.
Clinical Chemistry|October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophyNoemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Molecular Genetics and Metabolism|May 3, 2005
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Pageof 10

Showing results (11-20 of 100) with videos related to

Sort By:
Pageof 10
International Journal of Neonatal Screening|October 30, 2020
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in CaliforniaHao Tang, Jamie Matteson, Piero Rinaldo, et al.
Seminars in Perinatology|April 21, 2015
Newborn screening for lysosomal storage disordersDietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
Molecular Genetics and Metabolism|November 9, 2019
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1<sup>-/-</sup> mice, a model of succinic semialdehyde dehydrogenase deficiencyMadalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.
Molecular Genetics and Metabolism|September 10, 2005
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transportChantal F Morel, David Watkins, Patrick Scott, et al.
Clinical Chemistry|October 31, 2002
Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urineCharles A Kroll, Mark J Magera, Janice K Helgeson, et al.
Molecular Genetics and Metabolism|December 14, 2004
Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Journal of Child Neurology|February 25, 2003
Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi GroupNeil R M Buist, Olivier Dulac, Teodoro Bottiglieri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2004
Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003Robert E Grier, William A Gahl, Tina Cowan, et al.
Clinical Chemistry|October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophyNoemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Molecular Genetics and Metabolism|May 3, 2005
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Pageof 10