Publications by authors named "Thi Chi Mai Tran"
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.
Mol Genet Metab Rep
December 2024
Introduction: Carnitine Palmitoyltransferase II (CPT II) deficiency encompasses a spectrum of disorders, with the lethal neonatal form (LNF) representing the rarest and most severe. While there are numerous gene variants that can cause CPT II deficiency, only 16 variants of these are known to be associated with LNF. This report presents the case of a neonatal male diagnosed with lethal CPT II deficiency, characterized by the presence of two heterogeneous variants.
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- * There are currently significant inconsistencies in how analytical performance is reported in laboratory medicine publications, which complicates the assessment of manuscript quality.
- * The IFCC WG-MEP developed the LEAP checklist to standardize reporting practices and enhance the quality of evidence in method evaluation publications within laboratory medicine journals.
Reporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
View Article and Find Full Text PDFReporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
View Article and Find Full Text PDFReporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
View Article and Find Full Text PDFReporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
View Article and Find Full Text PDFReporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
View Article and Find Full Text PDFReporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures.
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- * Researchers collected and analyzed urine samples from 25 patients suspected of having 5ARD2 and 104 male controls over four years, using gas chromatography-mass spectrometry (GC-MS) to measure steroid metabolites.
- * The findings indicated that patients with 5ARD2 had a distinctively low ratio of certain steroid metabolites, confirming the diagnosis and suggesting that urine steroid analysis should be considered a first-line test for diagnosing this condition.