• (68)Ga-PSMA PET/CT versus (18)F-FDG PET/CT for detecting lesions in a case of fumarate hydratase-deficient renal cell carcinoma
• ⁶⁸Ga-PSMA PET/CT versus ¹⁸F-FDG PET/CT for detecting lesions in a case of fumarate hydratase-deficient renal cell carcinoma
• A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-beta-Synthase Deficiency
• A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency
• A proposal for an updated staging system for LCHADD retinopathy
• A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study
• ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes
• Acupoint thread-embedding for children with tic disorders of spleen deficiency and liver hyperactivity and its effect on serum level of NSE
• Acute Hepatic Porphyria
• Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples
• Acute Intermittent Porphyria
• Aggressive renal cell carcinoma with biphasic papillary and solid clear cell features harboring IDH2 (R172M) mutation
• AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma
• Ala Dehydratase Deficiency Porphyria
• Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report
• An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations
• An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract
• BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions
• Benign metastasizing fumarate hydratase (FH)-deficient uterine leiomyomas: clinicopathological and molecular study with first documentation of multi-organ metastases
• Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
• Boron-containing carbonic anhydrases inhibitors
• Carbonic Anhydrase 3 is required for cardiac repair post myocardial infarction via Smad7-Smad2/3 signaling pathway
• Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
• Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria
• Classical homocystinuria presenting with transient basal ganglia pathology and dystonia
• Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
• Congenital erythropoietic porphyria
• Conversion obstacle from Mg-protoporphyrin IX to protochlorophyllide might be responsible for chlorophyll-deficient phenotype of the Huangjinya's albino offspring
• Cutaneous leiomyosarcoma in a case of hereditary leiomyomatosis and renal cell carcinoma syndrome
• D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature
• Deacetylation of ACO2 Is Essential for Inhibiting <em>Bombyx mori</em> Nucleopolyhedrovirus Propagation
• Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function
• Deficiency of SIAH1 promotes the formation of filopodia by increasing the accumulation of FASN in liver cancer
• Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
• Diurnal control of iron responsive element containing mRNAs through iron regulatory proteins IRP1 and IRP2 is mediated by feeding rhythms
• Dysregulation of hepatic one-carbon metabolism in classical homocystinuria: Implications of redox-sensitive DHFR repression and tetrahydrofolate depletion for pathogenesis and treatment
• Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
• Effect of Pb-exposure and B vitamin deficiencies on delta-aminolevulinic acid dehydratase activity among workers from Pb recycling plants
• Effect of Pb-exposure and B vitamin deficiencies on δ-aminolevulinic acid dehydratase activity among workers from Pb recycling plants
• Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations
• Evolutionary analysis and quality assessment of ζ-carbonic anhydrase sequences from environmental microbiome
• Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
• Expression of programmed cell death ligand 1 and clinicopathological and immunological characteristics in fumarate hydratase-deficient renal cell carcinoma
• Factors influencing the detection rate of fumarate peak in (1)H MR spectroscopy of fumarate hydratase-deficient renal cell carcinoma at 3 T MRI
• Factors influencing the detection rate of fumarate peak in ¹H MR spectroscopy of fumarate hydratase-deficient renal cell carcinoma at 3 T MRI
• FASN deficiency induces a cytosol-to-mitochondria citrate flux to mitigate detachment-induced oxidative stress
• FASN Inhibition Decreases MHC-I Degradation and Synergizes with PD-L1 Checkpoint Blockade in Hepatocellular Carcinoma
• First-in-Class Dual Targeting Compounds for the Management of Seizures in Glucose Transporter Type 1 Deficiency Syndrome
• From chemistry to genomics: A concise history of the porphyrias
• Fumarate hydratase as a metabolic regulator of immunity
• Fumarate hydratase-deficient renal cell carcinoma: an oncology care institutional experience
• Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
• Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation
• Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
• Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata
• Glycine homeostasis requires reverse SHMT flux
• H₂S regulation of iron homeostasis by IRP1 improves vascular smooth muscle cell functions
• Hepatic FASN deficiency differentially affects nonalcoholic fatty liver disease and diabetes in mouse obesity models
• High-intensity focused ultrasound ablation in the treatment of fumarate hydratase-deficient uterine leiomyoma
• Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine beta-synthase-deficient mice
• Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine β-synthase-deficient mice
• Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
• Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency
• Interchangeability of class I and II fumarases in an obligate methanotroph Methylotuvimicrobium alcaliphilum 20Z
• Iron regulatory protein 2 contributes to antimicrobial immunity by preserving lysosomal function in macrophages
• Isobavachalcone Exhibits Potent Antifungal Efficacy by Inhibiting Enolase Activity and Glycolysis in <em>Candida albicans</em>
• Itaconate protects ferroptotic neurons by alkylating GPx4 post stroke
• Large-scale preparation of yeast strains expressing condensates derived from a glycolytic enzyme via controlled dissolved oxygen levels under hypoxia
• Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn
• Malignant glomus tumor arising in association with a fumarate hydratase-deficient leiomyoma: An unusual collision tumor
• Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase-Deficient Renal Cell Carcinoma
• Metabolic rewiring enables ammonium assimilation via a non-canonical fumarate-based pathway
• Metabolic rewiring promotes anti-inflammatory effects of glucocorticoids
• Mitochondrial tRNA pseudouridylation governs erythropoiesis
• Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity
• Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
• Papillary Renal Cell Carcinoma: Evolving Classification by Combined Morphologic and Molecular Means
• Phosphatidylcholine-deficient suppressor mutant of Sinorhizobium meliloti, altered in fatty acid synthesis, partially recovers nodulation ability in symbiosis with alfalfa (Medicago sativa)
• PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria
• PRMT5 activates lipid metabolic reprogramming via MYC contributing to the growth and survival of mantle cell lymphoma
• Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant
• Raman micro-spectroscopy reveals the spatial distribution of fumarate in cells and tissues
• Role of circadian clock system in the mitochondrial trans-sulfuration pathway and tissue remodeling
• Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic
• Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report
• Sporadic fumarate hydratase-deficient cutaneous leiomyomatosis
• Staphylococcal aconitase expression during iron deficiency is controlled by an sRNA-driven feedforward loop and moonlighting activity
• Substrate Sequestration and Chain Flipping in Human Mitochondrial Acyl Carrier Protein
• Targeted macrophage phagocytosis by Irg1/itaconate axis improves the prognosis of intracerebral hemorrhagic stroke and peritonitis
• The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma
• The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function
• The Role of Fatty Acid Synthase in the Vascular Smooth Muscle Cell to Foam Cell Transition
• The Role of Morphology in Predicting Fumarate Hydratase-deficient Uterine Leiomyomas in Young Women
• The use of Clinicopathological, immunohistochemistry and molecular detection in the diagnosis of fumarate hydratase-deficient uterine leiomyomas
• Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
• Transcriptional, post-transcriptional, and post-translational regulation of polyunsaturated fatty acid synthase genes in Aurantiochytrium limacinum strain BL10: Responses to nitrogen starvation
• Update on Selected High-grade Renal Cell Carcinomas of the Kidney: FH-deficient, ALK-rearranged, and Medullary Carcinomas
• Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report
• Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation