The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California

por Tang, Hao, Matteson, Jamie, Rinaldo, Piero, Tortorelli, Silvia, Currier, Robert, Sciortino, Stanley
Publicado 2020

Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance

por Swanson, Leah A., Johannsson, Freyr, Tortorelli, Silvia, Yi, Cecilia Arana, Shah, Surbhi
Publicado 2022

367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

por Wurth, Rachel, Turgeon, Coleman, ZinandréStander, Gavrilov, Dimitar, Hall, Patricia, Matern, Dietrich, Schultz, Matthew, Tortorelli, Silvia, Oglesbee, Devin
Publicado 2023

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

por Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero
Publicado 2020

Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

por Majumdar, Ramanath, Yori, Andrew, Rush, Peggy W., Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Feldman, Gerald L., Oglesbee, Devin
Publicado 2017

Newborn Screening for X-Linked Adrenoleukodystrophy

por Moser, Ann B., Jones, Richard O., Hubbard, Walter C., Tortorelli, Silvia, Orsini, Joseph J., Caggana, Michele, Vogel, Beth H., Raymond, Gerald V.
Publicado 2016

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

por Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Publicado 2021

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †

por Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean M., Turgeon, Coleman T., Tucker, Justin N., Tang, Hao, Currier, Robert, Isaya, Grazia, Rinaldo, Piero, Matern, Dietrich
Publicado 2020

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

por Peck, Dawn S., Lacey, Jean M., White, Amy L., Pino, Gisele, Studinski, April L., Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J. Austin, Murray, Brianna K., Jones, Kelly L., Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia
Publicado 2020

Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas

por Riviere-Cazaux, Cecile, Lacey, Jean M, Carlstrom, Lucas P, Laxen, William J, Munoz-Casabella, Amanda, Hoplin, Matthew D, Ikram, Samar, Zubair, Abdullah Bin, Andersen, Katherine M, Warrington, Arthur E, Decker, Paul A, Kaufmann, Timothy J, Campian, Jian L, Eckel-Passow, Jeanette E, Kizilbash, Sani H, Tortorelli, Silvia, Burns, Terry C
Publicado 2023

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

por Blackburn, Patrick R., Hickey, Raymond D., Nace, Rebecca A., Giama, Nasra H., Kraft, Daniel L., Bordner, Andrew J., Chaiteerakij, Roongruedee, McCormick, Jennifer B., Radulovic, Maja, Graham, Rondell P., Torbenson, Michael S., Tortorelli, Silvia, Scott, C. Ronald, Lindor, Noralane M., Milliner, Dawn S., Oglesbee, Devin, Al‐Qabandi, Wafa'a, Grompe, Markus, Gavrilov, Dimitar K., El‐Youssef, Mounif, Clark, Karl J., Atwal, Paldeep S., Roberts, Lewis R., Klee, Eric W., Ekker, Stephen C.
Publicado 2016