Piero Rinaldo
Affiliations: | Yale University, New Haven, CT |
Area:
Genetics, Nutrition, Molecular BiologyGoogle:
"Piero Rinaldo"
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Publications
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| Tang H, Matteson J, Rinaldo P, et al. (2020) The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California. International Journal of Neonatal Screening. 6: 62 |
| Tangeraas T, Sæves I, Klingenberg C, et al. (2020) Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. International Journal of Neonatal Screening. 6: 51 |
| Gavrilov DK, Piazza AL, Pino G, et al. (2020) The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism. International Journal of Neonatal Screening. 6: 33 |
| Peck DS, Lacey JM, White AL, et al. (2020) Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. International Journal of Neonatal Screening. 6: 10 |
| Sanders KA, Gavrilov DK, Oglesbee D, et al. (2020) A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. International Journal of Neonatal Screening. 6 |
| Schultz MJ, Netzel BC, Singh RH, et al. (2020) Laboratory monitoring of patients with hereditary tyrosinemia type I. Molecular Genetics and Metabolism |
| Kirby T, Walters DC, Brown M, et al. (2020) Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes. Metabolic Brain Disease |
| Guenzel AJ, Turgeon CT, Nickander KK, et al. (2020) The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Pino G, Conboy E, Tortorelli S, et al. (2019) Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Molecular Genetics and Metabolism |
| Brown M, Turgeon C, Rinaldo P, et al. (2019) Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1 mice, a model of succinic semialdehyde dehydrogenase deficiency. Molecular Genetics and Metabolism |