PieroRinaldoMD

PubMed

• 3 citations
  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, Anil K. Madugundu, Madan Gopal Ramarajan, Jae Hun Jung, Nabidul H. Chowdhury, Salah...> ;Molecular Omics. 2021 Sep 14
• 1 citations
  Limited Expansion of Human Hepatocytes in FAH/RAG2-Deficient Swine.
  Erek Nelson, Ellen L. Larson, Dong Jin Joo, Shennen A. Mao, Jaime Glorioso, Anan Abu Rmilah, Wei Zhou, Yao Jia, Taofic Mounajjed, Min Shi, Melanie C. Bois, Adam J. Woo...> ;Tissue Engineering. Part A. 2021 Oct 7
• 11 citations
  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, Dietrich Matern, Elitza S. Theel> ;Plos One. 2021 May 28
• 10 citations
  A new D-galactose treatment monitoring index for PGM1-CDG.
  Ester Perales-Clemente, Kristen Liedtke, April Studinski, Silvia Radenkovic, Dimitar Gavrilov, Devin Oglesbee, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli, Eva M...> ;Journal of Inherited Metabolic Disease. 2021 May 27
• 14 citations
  A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpret...
  Alexander D. Rowe, Stephanie D Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg Marquardt, Bobby J Miller, Chr...> ;International Journal of Neonatal Screening. 2021 Apr 23
• 4 citations
  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, Jenny Thies, Carlos Ferreira, Pavel N. Pichurin, William Laxen, Kimiyo Raymond, Dimita...> ;JIMD Reports. 2021 Apr 5
• Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria
  Ester Perales-Clemente, Angela L. Hewitt, April Studinski, Jan Mendelt Tillema, William Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher> ;JIMD Reports. 2021 Mar 1
• 5 citations
  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, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Pier...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 3 citations
  Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
  Trevor O. Kirby, Dana C. Walters, Xutong Shi, Coleman T. Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa L. DiBacco, Phillip L. Pea...> ;Orphanet Journal of Rare Diseases. 2020 Sep 23
• 4 citations
  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, Stanley Sciortino> ;International Journal of Neonatal Screening. 2020 Sep 1
• 14 citations
  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, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha F...> ;International Journal of Neonatal Screening. 2020 Sep 1
• 3 citations
  Laboratory monitoring of patients with hereditary tyrosinemia type I
  Matthew J. Schultz, Brian C. Netzel, Rani H. Singh, Gisele Pino, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Wendy E. Smith, Di...> ;Molecular Genetics and Metabolism. 2020 Jun 6
• 7 citations
  Does metabolomic profile differ with regard to birth weight
  Harpa Vidarsdottir, Thordur Thorkelsson, Thorhallur I. Halldorsson, Ragnar Bjarnason, Reynir Tómas Geirsson, Piero Rinaldo, Leifur Franzson> ;Pediatric Research. 2021 Apr 1
• 1 citations
  Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes (Metabolic Brain Disease,...
  Trevor Kirby, Dana C. Walters, Madalyn Brown, Erwin E.W. Jansen, Gajja S. Salomons, Coleman T. Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglie...> ;Metabolic Brain Disease. 2020 Jun 1
• 18 citations
  A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Karen A. Sanders, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber McDonald...> ;International Journal of Neonatal Screening. 2020 May 30
• 19 citations
  The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalami...
  Dimitar Gavrilov, Amy L Piazza, Gisele Pino, Coleman T. Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo> ;International Journal of Neonatal Screening. 2020 Apr 10
• 13 citations
  Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes
  Trevor Kirby, Dana C. Walters, Madalyn Brown, Erwin E.W. Jansen, Gajja S. Salomons, Coleman T. Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglie...> ;Metabolic Brain Disease. 2020 Apr 1
• 4 citations
  Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
  Madalyn Brown, Coleman T. Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean Baptiste Roullet, K. Michael Gibson> ;JIMD Reports. 2020 Feb 26
• 34 citations
  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 Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Mari...> ;Genetics in Medicine. 2020 Feb 24
• 13 citations
  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, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J Austin ...> ;International Journal of Neonatal Screening. 2020 Mar 1
• 5 citations
  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 K. Nickander, Jean M. Lacey, Dawn Peck, April Studinski, Amy M White, Dimitar Gavrilov, Piero Rinaldo, D...> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 5 citations
  Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.
  Madalyn Brown, Coleman T. Turgeon, Piero Rinaldo, Jean Baptiste Roullet, K. Michael Gibson> ;Molecular Genetics and Metabolism. 2019 Oct 31
• 6 citations
  Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver.
  Yi Li, Harvey S. Chen, Mohammed F Shaheen, Dong Jin Joo, Bruce Amiot, Piero Rinaldo, Scott L. Nyberg> ;Xenotransplantation. 2019 Jul 1
• 24 citations
  Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
  J. Lawrence Merritt, Linnea L. Brody, Gisele Pino, Piero Rinaldo> ;Molecular Genetics and Metabolism. 2018 Jun 1
• 37 citations
  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, Dietrich Matern, Devin Oglesbee> ;Clinical Chemistry. 2018 Jan 1
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