Publications by authors named "Piero Rinaldo"

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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo

Front Genet· July 2022

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Limited Expansion of Human Hepatocytes in FAH/-Deficient Swine.
Erek David Nelson, Ellen Larson, Dong Jin Joo, Shennen Mao, Jaime Glorioso, Piero Rinaldo

Tissue Eng Part A· February 2022

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Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonates.
Seul Kee Byeon, Rasheda Khanam, Sayedur Rahman, Tarik Hasan, Syed Jafar Raza Rizvi, Piero Rinaldo

Mol Omics· December 2021

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A new D-galactose treatment monitoring index for PGM1-CDG.
Ester Perales-Clemente, Kristen Liedtke, April Studinski, Silvia Radenkovic, Dimitar Gavrilov, Piero Rinaldo

J Inherit Metab Dis· September 2021

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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Adam J Guenzel, Patricia L Hall, Anna I Scott, Christina Lam, Irene J Chang, Piero Rinaldo

JIMD Rep· July 2021

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Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots.
Coleman T Turgeon, Karen A Sanders, Piero Rinaldo, Dane Granger, Heather Hilgart

PLoS One· June 2021

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Does metabolomic profile differ with regard to birth weight?
Harpa Vidarsdottir, Thordur Thorkelsson, Thorhallur Ingi Halldorsson, Ragnar Bjarnason, Reynir Tomas Geirsson, Piero Rinaldo

Pediatr Res· April 2021

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A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Alexander D Rowe, Stephanie D Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Piero Rinaldo

Int J Neonatal Screen· April 2021

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Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.
Ester Perales-Clemente, Angela L Hewitt, April L Studinski, Jan-Mendelt Tillema, William J Laxen, Piero Rinaldo

JIMD Rep· March 2021

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Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, Noemi Vidal-Folch, Kris Liedtke, Piero Rinaldo

Am J Med Genet A· January 2021

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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
Trevor Kirby, Dana C Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo

Orphanet J Rare Dis· September 2020

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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Piero Rinaldo

Int J Neonatal Screen· September 2020

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The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.
Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier

Int J Neonatal Screen· September 2020

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Laboratory monitoring of patients with hereditary tyrosinemia type I.
Matthew J Schultz, Brian C Netzel, Rani H Singh, Gisele B Pino, Dimitar K Gavrilov, Piero Rinaldo

Mol Genet Metab· August 2020

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, Amy L White, Dawn S Peck, Piero Rinaldo

Genet Med· June 2020

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Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Trevor Kirby, Dana C Walters, Madalyn Brown, Erwin Jansen, Gajja S Salomons, Piero Rinaldo

Metab Brain Dis· June 2020

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Karen A Sanders, Dimitar K Gavrilov, Devin Oglesbee, Kimiyo M Raymond, Silvia Tortorelli, Piero Rinaldo

Int J Neonatal Screen· June 2020

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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.
Dimitar K Gavrilov, Amy L Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Piero Rinaldo

Int J Neonatal Screen· June 2020

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Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S Salomons

JIMD Rep· May 2020

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Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Trevor Kirby, Dana C Walters, Madalyn Brown, Erwin Jansen, Gajja S Salomons, Piero Rinaldo

Metab Brain Dis· April 2020

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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, Gisele Pino, April L Studinski, Piero Rinaldo

Int J Neonatal Screen· March 2020

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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, Sara Minnich, Kim Nickander, Piero Rinaldo

Mol Genet Metab· February 2020

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Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1 mice, a model of succinic semialdehyde dehydrogenase deficiency.
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Jean-Baptiste Roullet, K Michael Gibson

Mol Genet Metab· December 2019

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Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver.
Yi Li, Harvey S Chen, Mohammed Shaheen, Dong Jin Joo, Bruce P Amiot, Piero Rinaldo

Xenotransplantation· July 2019

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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli

Clin Chem· December 2018

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