Resultados de búsqueda - Zinandre Stander

488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism. por Rachel Wurth, Coleman Turgeon, Zinandré Stander, Devin Oglesbee

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P037: Masked by chronic substance abuse, and blindsided by a multi-enzyme complex deficiency: An intriguing case report por Zinandré Stander, Jessica Kraker, Silvia Tortorelli, Devin Oglesbee, John Chen, Lisa Schimmenti

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P674: Designing an untargeted metabolomics assay to detect biomarkers for inborn errors of metabolism in the clinical laboratory por Rachel Wurth, Coleman Turgeon, Zinandré Stander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

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Characterizing Marathon-Induced Metabolic Changes Using ¹H-NMR Metabolomics por Rachelle Bester, Zinandré Stander, Shayne Mason, Karen M. Keane, Glyn Howatson, Tom Clifford, Emma J. Stevenson, Du Toit Loots

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Beetroot juice — a suitable post-marathon metabolic recovery supplement? por Zinandré Stander, Laneke Luies, Mari van Reenen, Glyn Howatson, Karen M. Keane, Tom Clifford, Emma J. Stevenson, Du Toit Loots

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P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation por Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

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O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics por Rachel Wurth, Coleman Turgeon, Zinandre Stander, Dietrich Matern, Amy White, Dimitar Gavrilov, Patricia Hall, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

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The metabolic recovery of marathon runners: an untargeted 1H-NMR metabolomics perspective por Rachelle Bester, Zinandré Stander, Shayne Mason, Karen M. Keane, Glyn Howatson, Glyn Howatson, Tom Clifford, Emma J. Stevenson, Du Toit Loots

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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome por Qiliang Ding, Zinandre Stander, Brandon J. Elizalde, Erica S. Stelmach, Jaime C. Duncan, Noemi Vidal-Folch, Linda Hasadsri, Kandelaria M. Rumilla, Wei Shen

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<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I por Zinandré Stander, Amy L. White, Matthew Lynch, David Coman, Justin Rosati, Diana Bailey, Jessica Johnson, Bo Hoon Lee, ChinTo Fong, Joseph Orsini, Matthew J. Schultz, Devin Oglesbee, Dimitar Gavrilov, Dietrich Matern, Patricia L. Hall, Silvia Tortorelli

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