Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing.

Molecular genetics and metabolism reports·2018

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Molecular genetics and metabolism·2011

Statin therapy depresses total body fat oxidation in the absence of genetic limitations to fat oxidation.

Journal of inherited metabolic disease·2007

The distribution of white blood cell fat oxidation in health and disease.

Journal of inherited metabolic disease·2004

Heterozygosity: an expanding role in proteomics.

Molecular genetics and metabolism·2001

The clinical laboratory evaluation of the patient with noninflammatory myopathy.

Current rheumatology reports·2001

Optimal Positive Control Assays for Methylation-Specific PCR.

Clinical chemistry·2026

Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Clinical chemistry·2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Clinical chemistry·2026

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Clinical chemistry·2026

High Prevalence of Fatigue is Linked to Depression in Inflammatory Bowel Disease.

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates·2026

Dataset of B-vitamins and selected one-carbon and sulfur-containing metabolites in maternal venous and paired umbilical venous and arterial plasma at elective caesarean delivery.

Data in brief·2026

A nomogram for predicting insulin resistance in polycystic ovary syndrome based on serum amino acid profiles and anti-Müllerian hormone.

American journal of translational research·2026

Dual-region deep learning model integrating prostate and peri-prostatic adipose tissue MRI features for bone metastasis prediction in prostate cancer.

Frontiers in oncology·2026

The prognostic nutritional index vs. MELD for short-term mortality in critically ill liver disease: a retrospective multi-cohort study.

Frontiers in nutrition·2026

Serum phoenixin-14 levels in chronic kidney disease and hemodialysis patients: a cross-sectional study.

Frontiers in medicine·2026

Related Experiment Videos

Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on

Related Concept Videos

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing.

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Statin therapy depresses total body fat oxidation in the absence of genetic limitations to fat oxidation.

The distribution of white blood cell fat oxidation in health and disease.

Heterozygosity: an expanding role in proteomics.

The clinical laboratory evaluation of the patient with noninflammatory myopathy.

Optimal Positive Control Assays for Methylation-Specific PCR.

Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

High Prevalence of Fatigue is Linked to Depression in Inflammatory Bowel Disease.

Dataset of B-vitamins and selected one-carbon and sulfur-containing metabolites in maternal venous and paired umbilical venous and arterial plasma at elective caesarean delivery.

A nomogram for predicting insulin resistance in polycystic ovary syndrome based on serum amino acid profiles and anti-Müllerian hormone.

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Related Experiment Videos

Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on...

Related Concept Videos

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Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on