• A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy
• AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives
• Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy
• Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy
• Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy
• An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant
• An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
• An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy
• Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development
• Bioenergetics dysfunction, mitochondrial permeability transition pore opening and lipid peroxidation induced by hydrogen sulfide as relevant pathomechanisms underlying the neurological dysfunction characteristic of ethylmalonic encephalopathy
• Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration
• Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria
• Case Series of Ethylmalonic Encephalopathy from Southern India
• Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism
• Child Neurology: Ethylmalonic encephalopathy
• Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
• Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy
• Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma
• Clinical Therapeutic Management of Human Mitochondrial Disorders
• Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
• Compromised therapeutic value of pediatric liver transplantation in ethylmalonic encephalopathy: A case report
• Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy
• Curcumin reduces myocardial ischemia-reperfusion injury, by increasing endogenous H₂S levels and further modulating m⁶A
• Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria
• Depleted uranium causes renal mitochondrial dysfunction through the ETHE1/Nrf2 pathway
• Detoxification of H(2)S by differentiated colonic epithelial cells: implication of the sulfide oxidizing unit and of the cell respiratory capacity
• Differential protein expression in metallothionein protection from depleted uranium-induced nephrotoxicity
• Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease
• Disruption of Bioenergetics in the Intestine of Wistar Rats Caused by Hydrogen Sulfide and Thiosulfate: A Potential Mechanism of Chronic Hemorrhagic Diarrhea in Ethylmalonic Encephalopathy
• Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies
• Distribution, diversity, and activities of sulfur dioxygenases in heterotrophic bacteria
• Disturbance of energy and redox homeostasis and reduction of Na+,K+-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats
• Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
• ETHE1 Accelerates Triple-Negative Breast Cancer Metastasis by Activating GCN2/eIF2α/ATF4 Signaling
• ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts
• ETHE1 overexpression promotes SIRT1 and PGC1α mediated aerobic glycolysis, oxidative phosphorylation, mitochondrial biogenesis and colorectal cancer
• Ethylmalonic acid impairs bioenergetics by disturbing succinate and glutamate oxidation and induces mitochondrial permeability transition pore opening in rat cerebellum
• Ethylmalonic acid impairs brain mitochondrial succinate and malate transport
• Ethylmalonic acid induces permeability transition in isolated brain mitochondria
• Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex
• Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
• Ethylmalonic encephalopathy 1 initiates overactive autophagy in depleted uranium-induced cytotoxicity in the human embryonic kidney 293 cells
• Ethylmalonic Encephalopathy 1 Protein Is Increased in Colorectal Adenocarcinoma
• Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
• Ethylmalonic encephalopathy associated with crescentic glomerulonephritis
• Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome
• Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre
• Ethylmalonic Encephalopathy in an Indian Boy
• Ethylmalonic encephalopathy masquerading as meningococcemia
• Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype
• Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
• Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation
• Ethylmalonic encephalopathy: Phenotype-genotype description and review of its management
• Ethylmalonic encephalopathy: phenotype-genotype description and review of its management
• Ethylmalonic encephalopathy. Another patient from Kuwait
• Expression of abiotic stress inducible ETHE1-like protein from rice is higher in roots and is regulated by calcium
• Gastrointestinal and hepatic manifestations of mitochondrial disorders
• Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center
• Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H₂S homeostasis
• Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease
• Hydrogen Sulfide Oxidation by Myoglobin
• Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review
• Importance of acrocyanosis in delayed walking
• Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
• Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
• Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease
• Mechanism-based inhibition of human persulfide dioxygenase by γ-glutamyl-homocysteinyl-glycine
• Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches
• Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies
• Molecular pathways differentiate hepatitis C virus (HCV) recurrence from acute cellular rejection in HCV liver recipients
• Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
• Multiomics of parkinsonism cynomolgus monkeys highlights significance of metabolites in interaction between host and microbiota
• Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
• Multiplexed LC-MS/MS analysis of methylsuccinic acid, ethylmalonic acid, and glutaric acid in plasma and urine
• Mystery Case: An infant with developmental delay, epileptic spasms, and acrocyanosis
• Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
• Novel Compound Heterozygous Variants of <em>ETHE1</em> Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report
• Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report
• Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome
• Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1
• Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications
• Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy
• Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency
• Recent advances in liver transplantation for metabolic disease
• Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy
• Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China
• Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy
• Sequential Accumulation of 'Driver' Pathway Mutations Induces the Upregulation of Hydrogen-Sulfide-Producing Enzymes in Human Colonic Epithelial Cell Organoids
• Severe early onset ethylmalonic encephalopathy with West syndrome
• Staphylococcus aureus CstB Is a Novel Multidomain Persulfide Dioxygenase-Sulfurtransferase Involved in Hydrogen Sulfide Detoxification
• Stress response of OsETHE1 is altered in response to light and dark conditions
• Structure-Based Design of Versatile Biosensors for Small Molecules Based on the PAS Domain of a Thermophilic Histidine Kinase
• Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine
• Sulfide detoxification in plant mitochondria
• Sulphide quinone reductase contributes to hydrogen sulphide metabolism in murine peripheral tissues but not in the CNS
• The mitochondrial sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 is required for amino acid catabolism during carbohydrate starvation and embryo development in Arabidopsis
• The role of previously unmeasured organic acids in the pathogenesis of severe malaria
• Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency
• Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency
• Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation