Fumarase Deficiency Latest Advances

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

Journal: American journal of medical genetics. Part A

Published: December 19, 2025

Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.

Journal: Diagnostics (Basel, Switzerland)

Published: October 11, 2025

Do urinary bladder smooth muscle neoplasms show morphologic and immunophenotypic features of their uterine fumarate hydratase-deficient counterparts?

Journal: Annals of diagnostic pathology

Published: July 02, 2025

Clinicopathological features and prognosis of 117 cases of fumarate hydratase-deficient uterine leiomyomas

Journal: Zhonghua fu chan ke za zhi

Published: June 29, 2025

Intravenous leiomyomatosis with cardiac involvement: clinicopathological and molecular insights including fumarate hydratase deficiency.

Journal: Journal of clinical pathology

Published: June 18, 2025

Clinical implications of expanded carrier screening for pregnancy-related care and individual health.

Journal: Fertility and sterility

Published: April 24, 2025

The Morphologic and Molecular Heterogeneity of Fumarate Hydratase-deficient Leiomyomas: Integrative Molecular Profiling of Uterine Smooth Muscle Tumors With Histologic Feature Correlation.

Journal: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists

Published: January 27, 2025

Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency.

Journal: Clinical nuclear medicine

Published: January 03, 2024

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Journal: Frontiers in genetics

Published: July 16, 2023

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.

Journal: International journal of surgical pathology

Published: June 14, 2023

Fumarase Deficiency and Its Effect on Infertility: A Case Series.

Journal: Journal of reproduction & infertility

Published: May 24, 2023

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.

Journal: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists

Published: February 02, 2023

Fumarase Deficiency Latest Advances

Find the Latest Research About Fumarase Deficiency

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.

Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.

Do urinary bladder smooth muscle neoplasms show morphologic and immunophenotypic features of their uterine fumarate hydratase-deficient counterparts?

Do urinary bladder smooth muscle neoplasms show morphologic and immunophenotypic features of their uterine fumarate hydratase-deficient counterparts?

Clinicopathological features and prognosis of 117 cases of fumarate hydratase-deficient uterine leiomyomas

Clinicopathological features and prognosis of 117 cases of fumarate hydratase-deficient uterine leiomyomas

Intravenous leiomyomatosis with cardiac involvement: clinicopathological and molecular insights including fumarate hydratase deficiency.

Intravenous leiomyomatosis with cardiac involvement: clinicopathological and molecular insights including fumarate hydratase deficiency.

Clinical implications of expanded carrier screening for pregnancy-related care and individual health.

Clinical implications of expanded carrier screening for pregnancy-related care and individual health.

The Morphologic and Molecular Heterogeneity of Fumarate Hydratase-deficient Leiomyomas: Integrative Molecular Profiling of Uterine Smooth Muscle Tumors With Histologic Feature Correlation.

The Morphologic and Molecular Heterogeneity of Fumarate Hydratase-deficient Leiomyomas: Integrative Molecular Profiling of Uterine Smooth Muscle Tumors With Histologic Feature Correlation.

Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency.

Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

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 Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.

Fumarase Deficiency and Its Effect on Infertility: A Case Series.

Fumarase Deficiency and Its Effect on Infertility: A Case Series.

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 and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors.