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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.

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Metabolism