• ¹H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies
• 1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism
• 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
• A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia
• A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry
• A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
• A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions
• A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia
• 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)
• Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry
• Altered immune response in organic acidemia
• An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
• An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy
• An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report
• Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan
• Analysis of IVD gene variants in four children with isovalerate acidemia
• Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review
• Angelman syndrome and isovaleric acidemia: What is the link?
• Aspects of Newborn Screening in Isovaleric Acidemia
• Atypical MR lenticular signal change in infantile isovaleric acidemia
• Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
• Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study
• Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
• Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
• Circulating Isovalerylcarnitine and Lung Cancer Risk: Evidence from Mendelian Randomization and Prediagnostic Blood Measurements
• Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA
• Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
• Columbus' egg: a practical approach to nutritional management in maple syrup urine disease
• Compound heterozygote variants: c.848A &gt; G; p.Glu283Gly and c.890C &gt; T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <em>(IVD)</em> gene causing severe Isovaleric acidemia with hyperammonemia
• Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
• Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
• Current understanding and progress of research on isovaleric acidemia
• Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis
• Diagnostic challenges and management of choledochal cyst in an 11-year-old child: a delayed diagnosis (a case report)
• Dietary practices in isovaleric acidemia: A European survey
• Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
• Disorders of branched chain amino acid metabolism
• Earwax: A potentially useful medium to identify inborn errors of metabolism?
• Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders
• Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
• Elevation of pivaloylcarnitine by sivelestat sodium in two children
• Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone
• Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration
• False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil
• Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias
• First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)
• Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates
• Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
• Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene
• Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
• Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
• High throughput metabolomics-proteomics investigation on metabolic phenotype changes in rats caused by <em>Radix Scrophulariae</em> using ultra-performance liquid chromatography with mass spectrometry
• Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
• Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
• Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing
• Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study
• Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia
• Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case
• Isovaleric Acidemia in Jordan
• Isovaleric Acidemia: A Case Report
• Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
• Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
• Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
• Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria
• Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey
• Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
• Mild inborn errors of metabolism in commonly used inbred mouse strains
• Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia
• Neonatal isovaleric acidemia in China: A case report and review of literature
• Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
• New Inborn Errors of Metabolism added in the French program of neonatal screening
• Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
• Newborn screening for isovaleric acidemia in Quanzhou, China
• Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants
• Organic acidurias in adults: late complications and management
• Pancytopenia and metabolic decompensation in a neonate
• Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
• Polyunsaturated fatty acid status in treated isovaleric acidemia patients
• Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
• Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
• Prevention team
• Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
• Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias
• Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
• Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province
• Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference
• Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt
• Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy
• Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population
• The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism
• The glycine <em>N</em>-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an <em>in-silico</em> and <em>in vitro</em> validation
• The markers of the organic acidemias and their ratios in healthy neonates in Serbian population
• The Newborn Screening Program in Italy: Comparison with Europe and other Countries.
• The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism
• The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
• Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression
• Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
• Unusual Metabolites in a Patient with Isovaleric Acidemia
• Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey