Disease: Fumaric aciduria
- ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
- Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature
- 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 Deficiency
- Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP)
- 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
- Fumaric Aciduria: A Rare Cause of Refractory Epilepsy
- Gene of the month: FH
- Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling
- Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency
- MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
- Multicenter retrospective study of 38 cases with fumarate hydratase deficiency uterine leiomyoma
- Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up
- Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria
- Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
- Uterine leiomyoma with fumarate hydratase deficiency: A case report