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Publications by Sarah H. Elsea

Recurrent ACADVL Molecular Findings in Individuals With a Positive Newborn Screen for Very Long Chain Acyl-coA Dehydrogenase (VLCAD) Deficiency in the United States

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

De Novo Missense Variant in the GTPase Effector Domain (GED) of DNM1L Leads to Static Encephalopathy and Seizures

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Journal of Pediatrics
Child HealthPediatricsPerinatology
2016English

Metabolomics in the Clinic: A Review of the Shared and Unique Features of Untargeted Metabolomics for Clinical Research and Clinical Testing

Journal of Mass Spectrometry
MedicineSpectroscopy
2018English

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Genetic Testing and Molecular Biomarkers
MedicineGenetics
2016English

Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients With Organic Acidemias Despite Dietary Meat Restrictions

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2016English

Mutations in RAI1 Associated With Smith–Magenis Syndrome

Nature Genetics
Genetics
2003English

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