• 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
• A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomiting, and Abdominal Pain and Diagnosed with Acute Fatty Liver of Pregnancy
• A case of beta-ketothiolase deficiency
• A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report
• A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis
• A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry
• A Novel Mutation in <em>ACAT1</em> Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis
• A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis
• A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature
• A treatable new cause of chorea: beta-ketothiolase deficiency
• Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis
• Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome
• An Altered Sphingolipid Profile as a Risk Factor for Progressive Neurodegeneration in Long-Chain 3-Hydroxyacyl-CoA Deficiency (LCHADD)
• An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency
• Analysis of a family with mitochondrial trifunctional protein deficiency caused by <em>HADHA</em> gene mutations
• Analysis of ACAT1 gene variants in a patient with beta-ketothiolase deficiency
• Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency
• Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency
• Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis
• Beta-ketothiolase deficiency and pregnancy
• Beta-ketothiolase deficiency brought with lethargy: case report
• Beta-ketothiolase deficiency in a Malaysian infant
• Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
• Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency
• Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis
• Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
• C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China
• Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam
• Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes
• Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene
• Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
• Clinical features and genetic analysis of three children with beta-ketothiolase deficiency
• Clinical phenotypic and genotypic analysis of 5 pediatric patients with beta-ketothiolase deficiency
• Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency
• Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
• Commentary
• Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
• Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature
• Dichorionic diamniotic twin pregnancy after preimplantation genetic testing and single blastocyst transfer
• Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies
• 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
• ECHS1 deficiency and its biochemical and clinical phenotype
• Effectiveness of Robotic-Assisted Gait Training and Aquatic Physical Therapy in a Child With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Case Report
• Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD
• Egr1 confers protection against acetaminophen‑induced hepatotoxicity via transcriptional upregulating of Acaa2
• Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency
• Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe beta-ketothiolase deficiency: A case report
• Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report
• Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency
• Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review
• Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders
• Exon 10 skipping in ACAT1 caused by a novel c.949G&gt;A mutation located at an exonic splice enhancer site
• Expanded newborn screening in New South Wales: missed cases
• First report of 3-oxothiolase deficiency in iran
• Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
• Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
• Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
• Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency
• Identification of two novel <em>ACAT1</em> variant associated with beta-ketothiolase deficiency in a 9-month-old boy
• Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy
• Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study
• Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
• Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study
• Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report
• Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period
• Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India
• Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency and beta-ketothiolase deficiency: two case reports and reflections of congenital ketone body metabolism disorder
• Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
• Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene
• Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
• MRI of pallidal involvement in Beta-ketothiolase deficiency
• MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations
• Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency
• Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
• New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population
• NMR-based urinalysis for beta-ketothiolase deficiency
• Oxoglutarate dehydrogenase and acetyl-CoA acyltransferase 2 selectively associate with H2A.Z-occupied promoters and are required for histone modifications
• Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Pathophysiological mechanisms in acute pancreatitis: Current understanding
• Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles"
• Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism
• Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
• Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
• Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature
• Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency
• Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up
• Seizure-induced impairment in neuronal ketogenesis: Role of zinc-α2-glycoprotein in mitochondria
• Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report
• Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults
• Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects
• Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening
• Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
• TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes
• The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
• The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
• Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
• Thermosensibility and mitochondrial trifunctional protein deficiencies
• Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry
• Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
• Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency