Disease: Dehydratase deficiency
- (68)Ga-PSMA PET/CT versus (18)F-FDG PET/CT for detecting lesions in a case of fumarate hydratase-deficient renal cell carcinoma
- <sup>68</sup>Ga-PSMA PET/CT versus <sup>18</sup>F-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 novel construction strategy of photoelectrochemical immunosensor for detecting neuron-specific enolase: Sensing mode integrating photoanode and photocathode
- A proposal for an updated staging system for LCHADD retinopathy
- A very long-chain fatty acid enzyme gene, PxHacd2 affects the temperature adaptability of a cosmopolitan insect by altering epidermal permeability
- 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
- Advanced fumarate hydratase-deficient renal cell carcinoma responding to combination immune checkpoint inhibitors
- Advances in the fumarate hydratase-deficient diseases
- 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
- 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
- Carbonic anhydrase II deficiency
- Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
- Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma
- 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
- Deacetylation of ACO2 Is Essential for Inhibiting <em>Bombyx mori</em> Nucleopolyhedrovirus Propagation
- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
- Differential Roles of Cystathionine Gamma-Lyase and Mercaptopyruvate Sulfurtransferase in Hapten-Induced Colitis and Contact Dermatitis in Mice
- Diffuse Carbonic Anhydrase 9 and GATA3 Expression in Fumarate Hydratase Deficient Renal Cell Carcinoma - A Case Report and Immunoprofile Review
- 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 a novel 70K Mac-2 binding protein antibody through screening of fucosylation-related antibodies
- 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
- Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice
- 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 <sup>1</sup>H 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
- Ferrodifferentiation regulates neurodevelopment via ROS generation
- FH (Fumarate Hydratase)-deficient renal cell carcinoma: A case report
- FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer
- First-in-Class Dual Targeting Compounds for the Management of Seizures in Glucose Transporter Type 1 Deficiency Syndrome
- FOXA2 controls the anti-oxidant response in FH-deficient cells
- Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors
- Fumarate hydratase deficient uterine leiomyoma: a clinicopathological and molecular analysis of 80 cases
- Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma
- Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations
- Fumarate hydratase-deficient renal cell carcinoma: a case report and review of the literature
- Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma
- 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
- Glycine homeostasis requires reverse SHMT flux
- Glycine homeostasis requires reverse SHMT flux
- H<sub>2</sub>S 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
- 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
- Hypothalamic JNK1-hepatic fatty acid synthase axis mediates a metabolic rewiring that prevents hepatic steatosis in male mice treated with olanzapine via intraperitoneal: Additional effects of PTP1B inhibition
- 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
- 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
- Metabolic rewiring enables ammonium assimilation via a non-canonical fumarate-based pathway
- Metabolomics analysis reveals changes related to pseudocyst formation induced by iron depletion in Trichomonas vaginalis
- 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
- NTRC and TRX-f Coordinately Affect the Levels of Enzymes of Chlorophyll Biosynthesis in a Light-Dependent Manner
- OsαCA1 Affects Photosynthesis, Yield Potential, and Water Use Efficiency in Rice
- 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
- Primate-conserved carbonic anhydrase IV and murine-restricted LY6C1 enable blood-brain barrier crossing by engineered viral vectors
- Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant
- Reconstruction of reverse transsulfuration pathway enables cysteine biosynthesis and enhances resilience to oxidative stress in Chinese Hamster Ovary cells
- Reporting on FH-deficient renal cell carcinoma using circulating succinylated metabolites
- Role of circadian clock system in the mitochondrial trans-sulfuration pathway and tissue remodeling
- Selective Hepatic <em>Cbs</em> Knockout Aggravates Liver Damage, Endothelial Dysfunction and ROS Stress in Mice Fed a Western Diet
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
- Soluble Enolase 1 of Candida albicans and Aspergillus fumigatus Stimulates Human and Mouse B Cells and Monocytes
- Sporadic fumarate hydratase-deficient cutaneous leiomyomatosis
- Strategic validation of variants of uncertain significance in <em>ECHS1</em> genetic testing
- 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
- Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy
- 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 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
- Update on Selected High-grade Renal Cell Carcinomas of the Kidney: FH-deficient, ALK-rearranged, and Medullary Carcinomas
- Upregulation of carbonic anhydrase 1 beneficial for depressive disorder
- Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation