Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Vidal-Folch, Noemi, Gavrilov, Dimitar, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich, Oglesbee, Devin
Published in Clinical chemistry (Baltimore, Md.) (01.12.2018)
Published in Clinical chemistry (Baltimore, Md.) (01.12.2018)
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Precision newborn screening for lysosomal disorders
Minter Baerg, Melissa M, Stoway, Stephanie D, Hart, Jeremy, Mott, Lea, Peck, Dawn S, Nett, Stephanie L, Eckerman, Jason S, Lacey, Jean M, Turgeon, Coleman T, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Matern, Dietrich, Mørkrid, Lars, Rinaldo, Piero
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Published in Journal of Inherited Metabolic Disease (01.11.2015)
Published in Journal of Inherited Metabolic Disease (01.11.2015)
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Book Review
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Turgeon, Coleman T, Sanders, Karen A, Rinaldo, Piero, Granger, Dane, Hilgart, Heather, Matern, Dietrich, Theel, Elitza S
Published in PloS one (28.05.2021)
Published in PloS one (28.05.2021)
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Guenzel, Adam J, Turgeon, Coleman T, Nickander, Kim K, White, Amy L, Peck, Dawn S, Pino, Gisele B, Studinski, April L, Prasad, Vinod K, Kurtzberg, Joanne, Escolar, Maria L, Lasio, Maria Laura Duque, Pellegrino, Joan E, Sakonju, Ai, Hickey, Rachel E, Shallow, Natalie M, Ream, Margie A, Orsini, Joseph J, Gelb, Michael H, Raymond, Kimiyo, Gavrilov, Dimitar K, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression
MahmoudianDehkordi, Siamak, Ahmed, Ahmed T, Bhattacharyya, Sudeepa, Han, Xianlin, Baillie, Rebecca A, Arnold, Matthias, Skime, Michelle K, John-Williams, Lisa St, Moseley, M Arthur, Thompson, J Will, Louie, Gregory, Riva-Posse, Patricio, Craighead, W Edward, McDonald, William, Krishnan, Ranga, Rush, A John, Frye, Mark A, Dunlop, Boadie W, Weinshilboum, Richard M, Kaddurah-Daouk, Rima
Published in Translational psychiatry (02.03.2021)
Published in Translational psychiatry (02.03.2021)
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Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
Tortorelli, Silvia, Turgeon, Coleman T, Gavrilov, Dimitar K, Oglesbee, Devin, Raymond, Kimiyo M, Rinaldo, Piero, Matern, Dietrich
Published in Clinical chemistry (Baltimore, Md.) (01.09.2016)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2016)
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Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
TURGEON, Coleman T, MAGERA, Mark J, CUTHBERT, Carla D, LOKEN, Perry R, GAVRILOV, Dimitar K, TORTORELLI, Silvia, RAYMOND, Kimiyo M, OGLESBEE, Devin, RINALDO, Piero, MATERN, Dietrich
Published in Clinical chemistry (Baltimore, Md.) (01.11.2010)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2010)
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Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes
Kirby, Trevor, Walters, Dana C., Brown, Madalyn, Jansen, Erwin, Salomons, Gajja S., Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael
Published in Metabolic brain disease (01.04.2020)
Published in Metabolic brain disease (01.04.2020)
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Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function
Brophy, Colleen M., Luebke‐Wheeler, Jennifer L., Amiot, Bruce P., Khan, Harris, Remmel, Rory P., Rinaldo, Piero, Nyberg, Scott L.
Published in Hepatology (Baltimore, Md.) (01.02.2009)
Published in Hepatology (Baltimore, Md.) (01.02.2009)
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Fatty acid oxidation disorders
Rinaldo, Piero, Matern, Dietrich, Bennett, Michael J
Published in Annual review of physiology (01.01.2002)
Published in Annual review of physiology (01.01.2002)
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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Kirby, Trevor, Walters, Dana C, Shi, Xutong, Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, DiBacco, Melissa, Pearl, Phillip L, Roullet, Jean-Baptiste, Gibson, K Michael
Published in Orphanet journal of rare diseases (23.09.2020)
Published in Orphanet journal of rare diseases (23.09.2020)
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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Brower, Amy, Chan, Kee, Williams, Marc, Berry, Susan, Currier, Robert, Rinaldo, Piero, Caggana, Michele, Gaviglio, Amy, Wilcox, William, Steiner, Robert, Holm, Ingrid A, Taylor, Jennifer, Orsini, Joseph J, Brunelli, Luca, Adelberg, Joanne, Bodamer, Olaf, Viall, Sarah, Scharfe, Curt, Wasserstein, Melissa, Chen, Jin Y, Escolar, Maria, Goldenberg, Aaron, Swoboda, Kathryn, Ficicioglu, Can, Matern, Dieter, Lee, Rachel, Watson, Michael
Published in Frontiers in genetics (22.07.2022)
Published in Frontiers in genetics (22.07.2022)
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Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature
Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal‐Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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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)
Oglesbee, Devin, Sanders, Karen A, Lacey, Jean M, Magera, Mark J, Casetta, Bruno, Strauss, Kevin A, Tortorelli, Silvia, Rinaldo, Piero, Matern, Dietrich
Published in Clinical chemistry (Baltimore, Md.) (01.03.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2008)
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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
Tang, Hao, Matteson, Jamie, Rinaldo, Piero, Tortorelli, Silvia, Currier, Robert, Sciortino, Stanley
Published in International journal of neonatal screening (01.09.2020)
Published in International journal of neonatal screening (01.09.2020)
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Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes
Kirby, Trevor, Walters, Dana C., Brown, Madalyn, Jansen, Erwin, Salomons, Gajja S., Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael
Published in Metabolic brain disease (01.06.2020)
Published in Metabolic brain disease (01.06.2020)
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