Disease: Multiple carboxylase deficiency- propionic acidemia
- A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
- Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases
- Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome
- Characterisation of the 1H and 13C NMR spectra of methylcitric acid
- Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
- Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism
- Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
- Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
- Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia
- Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia
- Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
- Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome
- Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism
- Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience
- Outcome of organic acidurias in China
- Propionic acidemia: a rare cause of cardiomyopathy
- Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
- Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience
- Simplified method for the chemical diagnosis of organic aciduria using GC/MS
- Systematic literature review and meta-analysis on the epidemiology of propionic acidemia
- Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia
- Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
- Unusual presentations of propionic acidemia