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ELSEA, SARAH
One or more keywords matched the following items that are connected to
ELSEA, SARAH
Item Type
Name
Academic Article
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Concept
Lipid Metabolism, Inborn Errors
Concept
Carbohydrate Metabolism, Inborn Errors
Concept
Amino Acid Metabolism, Inborn Errors
Concept
Energy Metabolism
Concept
Metabolism, Inborn Errors
Academic Article
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Academic Article
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Academic Article
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
Academic Article
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Academic Article
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Academic Article
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.
Academic Article
Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies.
Academic Article
Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.
Academic Article
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.
Academic Article
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Academic Article
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Academic Article
Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.
Academic Article
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Academic Article
Sphingolipid Metabolism Perturbations in Rett Syndrome.
Academic Article
Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.
Academic Article
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Academic Article
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Academic Article
Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
Academic Article
Clinical metabolomics for inborn errors of metabolism.
Academic Article
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Search Criteria
Metabolism