488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism
Wurth, Rachel, Turgeon, Coleman, Stander, Zinandré, Oglesbee, Devin
Published in Journal of clinical and translational science (01.04.2024)
Published in Journal of clinical and translational science (01.04.2024)
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Journal Article
O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics
Wurth, Rachel, Turgeon, Coleman, Stander, Zinandre, Matern, Dietrich, White, Amy, Gavrilov, Dimitar, Hall, Patricia, Schultz, Matthew, Tortorelli, Silvia, Oglesbee, Devin
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory
Wurth, Rachel, Turgeon, Coleman, ZinandréStander, Gavrilov, Dimitar, Hall, Patricia, Matern, Dietrich, Schultz, Matthew, Tortorelli, Silvia, Oglesbee, Devin
Published in Journal of clinical and translational science (01.04.2023)
Published in Journal of clinical and translational science (01.04.2023)
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Journal Article
P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory
Wurth, Rachel, Turgeon, Coleman, Stander, Zinandré, Gavrilov, Dimitar, Hall, Patricia, Matern, Dietrich, Schultz, Matthew, Tortorelli, Silvia, Oglesbee, Devin
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant
Wurth, Rachel, Jha, Abhishek, Kamilaris, Crystal, Gill, Anthony J, Poplawski, Nicola, Xekouki, Paraskevi, Quezado, Martha M, Pacak, Karel, Stratakis, Constantine A, Hannah-Shmouni, Fady
Published in Endocrinology, diabetes & metabolism case reports (28.03.2021)
Published in Endocrinology, diabetes & metabolism case reports (28.03.2021)
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Journal Article
Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia
Wurth, Rachel, Kamilaris, Crystal, Nilubol, Naris, Sadowski, Samira M, Berthon, Annabel, Quezado, Martha M, Faucz, Fabio R, Stratakis, Constantine A, Hannah-Shmouni, Fady
Published in Endocrinology, diabetes & metabolism case reports (29.04.2020)
Published in Endocrinology, diabetes & metabolism case reports (29.04.2020)
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Journal Article
An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism
Wurth, Rachel, Turgeon, Coleman, Stander, Zinandré, Oglesbee, Devin
Published in Molecular genetics and metabolism (01.01.2024)
Published in Molecular genetics and metabolism (01.01.2024)
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Journal Article
Endocrine Conditions and COVID-19
Shekhar, Skand, Wurth, Rachel, Kamilaris, Crystal D. C., Eisenhofer, Graeme, Barrera, Francisco J., Hajdenberg, Michelle, Tonleu, Joselyne, Hall, Janet E., Schiffrin, Ernesto L., Porter, Forbes, Stratakis, Constantine A., Hannah-Shmouni, Fady
Published in Hormone and metabolic research (01.07.2020)
Published in Hormone and metabolic research (01.07.2020)
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Journal Article
Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?
Wurth, Rachel, Hajdenberg, Michelle, Barrera, Francisco J, Shekhar, Skand, Copacino, Caroline E, Moreno-Peña, Pablo J, Gharib, Omar A.M., Porter, Forbes, Hiremath, Swapnil, Hall, Janet E, Schiffrin, Ernesto L, Eisenhofer, Graeme, Bornstein, Stefan R, Brito, Juan P., González-González, José Gerardo, Stratakis, Constantine A, Rodríguez-Gutiérrez, René, Hannah-Shmouni, Fady
Published in Postgraduate medical journal (01.05.2022)
Published in Postgraduate medical journal (01.05.2022)
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Journal Article
Prevalence of Diabetes and Hypertension and Their Associated Risks for Poor Outcomes in Covid-19 Patients
Barrera, Francisco J, Shekhar, Skand, Wurth, Rachel, Moreno-Pena, Pablo J, Ponce, Oscar J, Hajdenberg, Michelle, Alvarez-Villalobos, Neri A, Hall, Janet E, Schiffrin, Ernesto L, Eisenhofer, Graeme, Porter, Forbes, Brito, Juan P, Bornstein, Stefan R, Stratakis, Constantine A, González-González, José Gerardo, Rodríguez-Gutiérrez, René, Hannah-Shmouni, Fady
Published in Journal of the Endocrine Society (01.09.2020)
Published in Journal of the Endocrine Society (01.09.2020)
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Journal Article
A Case of Carney Triad Complicated by Renal Cell Carcinoma and a Germline SDHA Pathogenic Variant
Wurth, Rachel, Jha, Abhishek, Kamilaris, Crystal, Gill, Anthony J, Poplawski, Nicola, Xekouki, Paraskevi, Quezado, Martha M, Pacak, Karel, Hannah-Shmouni, Fady, Stratakis, Constantine A
Published in Journal of the Endocrine Society (03.05.2021)
Published in Journal of the Endocrine Society (03.05.2021)
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Journal Article
Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia
Wurth, Rachel, Tirosh, Amit, Kamilaris, Crystal D C, Camacho, Jancarlos, Faucz, Fabio R, Maria, Andrea Gutierrez, Berthon, Annabel, Papadakis, Georgios Z, Nilubol, Naris, Hamimi, Ahmed, Gharib, Ahmed M, Demidowich, Andrew, Zilbermint, Mihail, Eisenhofer, Graeme, Braun, Leah, Reincke, Martin, Stratakis, Constantine A, Hannah-Shmouni, Fady
Published in Journal of the Endocrine Society (01.01.2021)
Published in Journal of the Endocrine Society (01.01.2021)
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Journal Article