Cargando…

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

OBJECTIVES/GOALS: To develop an untargeted metabolomics assay that can holistically characterize the small molecule signatures of different inborn errors of metabolism (IEM) for biomarker discovery and identification of novel IEMs, with the goal of implementing the assay into the clinical laboratory...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wurth, Rachel, Turgeon, Coleman, ZinandrÃ©Stander, Gavrilov, Dimitar, Hall, Patricia, Matern, Dietrich, Schultz, Matthew, Tortorelli, Silvia, Oglesbee, Devin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2023
Materias:	Precision Medicine/Health
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129500/ http://dx.doi.org/10.1017/cts.2023.405

Ejemplares similares

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., et al.
Publicado: (2020)

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics
por: Ismail, Israa T, et al.
Publicado: (2019)

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
por: Miller, Marcus J., et al.
Publicado: (2015)

Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
por: Majumdar, Ramanath, et al.
Publicado: (2017)

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism
por: Bongaerts, Michiel, et al.
Publicado: (2020)

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism
por: Liu, Ning, et al.
Publicado: (2021)

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
por: Coene, Karlien L. M., et al.
Publicado: (2018)

Understanding Inborn Errors of Metabolism through Metabolomics
por: Driesen, Karen, et al.
Publicado: (2022)

Erratum: Ismail, I.T.; et al. Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. Metabolites 2019, 9, 242
por: Ismail, Israa T., et al.
Publicado: (2020)

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †
por: Sanders, Karen A., et al.
Publicado: (2020)

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform
por: Bonte, Ramon, et al.
Publicado: (2019)

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism
por: Mordaunt, Dylan, et al.
Publicado: (2020)

4518 Metabolomic Identifiers Predictive of Adverse Events due to Acetaminophen Administration
por: Sonn, Brandon Joseph, et al.
Publicado: (2020)

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., et al.
Publicado: (2021)

Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives
por: Cossu, Marcello, et al.
Publicado: (2023)

66942 Metabolomic endotype of bioenergetic dysfunction predicts mortality in critically ill patients with acute respiratory failure
por: Langley, Raymond J., et al.
Publicado: (2021)

GARROD'S INBORN ERRORS OF METABOLISM
Publicado: (1963)

Inborn Errors of Metabolism in Humans
por: Grossbard, Michael
Publicado: (1983)

Inborn Errors of Immunity and Phagocytosis
por: Seashore, Margretta R.
Publicado: (1980)

Inborn errors in the metabolism of glutathione
por: Ristoff, Ellinor, et al.
Publicado: (2007)

Garrod's Inborn Errors of Metabolism
por: Goldhor, Susan
Publicado: (1964)

Dysmorphology of inborn errors of metabolism
por: Kimonis, Virginia
Publicado: (2014)

Treatment of inborn errors of metabolism
por: Jalan, Anil B
Publicado: (2014)

Carnitine Inborn Errors of Metabolism
por: Almannai, Mohammed, et al.
Publicado: (2019)

Inborn errors of metabolite repair
por: Veiga‐da‐Cunha, Maria, et al.
Publicado: (2019)

Inborn Errors of Immunity and Cancer
por: Tiri, Alessandra, et al.
Publicado: (2021)

Endocrinopathies in Inborn Errors of Immunity
por: Takasawa, Kei, et al.
Publicado: (2021)

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
por: Norman, Brendan P., et al.
Publicado: (2021)

Flux analysis of inborn errors of metabolism
por: Reijngoud, D.-J.
Publicado: (2018)

Impact of pregnancy on inborn errors of metabolism
por: Wilcox, Gisela
Publicado: (2018)

Inborn errors of enzymes in glutamate metabolism
por: Rumping, Lynne, et al.
Publicado: (2019)

Neuroinflammation Associated With Inborn Errors of Immunity
por: Lindahl, Hannes, et al.
Publicado: (2022)

Epigenetic Alterations in Inborn Errors of Immunity
por: Romano, Roberta, et al.
Publicado: (2022)

Update on Neuropathies in Inborn Errors of Metabolism
por: Pająk, Renata, et al.
Publicado: (2021)

Future of Therapy for Inborn Errors of Immunity
por: Perez, Elena
Publicado: (2022)

Inborn errors of immunity and related microbiome
por: Hazime, Raja, et al.
Publicado: (2022)

Dendritic cells in inborn errors of immunity
por: Gupta, Sudhir, et al.
Publicado: (2023)

Transition of care in inborn errors of immunity
por: Tadros, Susan, et al.
Publicado: (2023)

Atopic manifestations of inborn errors of immunity
por: Sams, Laura, et al.
Publicado: (2023)

Inborn Errors of Purine Salvage and Catabolism
por: Camici, Marcella, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_4n9ugqurr0mb59dd5f6n3ikqc0