Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

[Is ultrasound guidance contributive to vascular access in endovascular therapy?]

Journal de medecine vasculaire·2017

[Outpatient thoracoscopic resection of lung nodules within a fast-track recovery program].

Revue des maladies respiratoires·2015

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

European journal of medical genetics·2015

Metabolism of citrulline in man.

Amino acids·2013

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Molecular genetics and metabolism·2013

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

JIMD reports·2013

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Journal of inherited metabolic disease·2026

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.

Cureus·2026

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.

Annals of pediatric cardiology·2026

The lactate-to-albumin ratio as a potential biomarker for acute kidney injury risk in critically ill patients with heart failure: a retrospective study with real-world external validation.

Frontiers in nutrition·2026

LC-MS/MS quantification of endogenous taurine in plasma and urine using surrogate matrix calibration and background subtraction: Application to renal transporter phenotyping.

Journal of pharmaceutical and biomedical analysis·2026

Phenotype variability in six new patients with beta-mannosidosis.

Molecular genetics and metabolism·2026

Metabolic cell death networks in Alzheimer's disease: mechanistic links and therapeutic perspectives of ferroptosis, cuproptosis, and disulfidptosis.

Frontiers in cell and developmental biology·2026

Related Experiment Videos

Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

Related Concept Videos

[Is ultrasound guidance contributive to vascular access in endovascular therapy?]

[Outpatient thoracoscopic resection of lung nodules within a fast-track recovery program].

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

Metabolism of citrulline in man.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

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Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.

The lactate-to-albumin ratio as a potential biomarker for acute kidney injury risk in critically ill patients with heart failure: a retrospective study with real-world external validation.

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Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

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