Associated Papers
Key role of Levitt's carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report.
Kang LL et al.
World Journal of Clinical Cases, 2026
The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria.
Ducamp S et al.
The Journal of Clinical Investigation, 2025
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.
Xiong H et al.
Orphanet Journal of Rare Diseases, 2025
Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes.
Vázquez-Folch SJ et al.
Cureus, 2025
Recurrent Liver Dysfunction in Erythropoietic Protoporphyria: A Case With Compound Heterozygous FECH Mutations.
Zhang YJ et al.
Journal of Digestive Diseases, 2025
Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria.
Levy C et al.
Hepatology Communications, 2025
Ferrochelatase Gene Variants Associated with Cholestasis in Adults: A Case Report.
Lu X et al.
Journal of Clinical and Translational Hepatology, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.
Yang T et al.
Frontiers in Medicine, 2025
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature.
Zeng T et al.
World Journal of Hepatology, 2024
When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion.
Rovaris S et al.
Dermatology Reports, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
Chen S et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024
Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
Wu SH et al.
Frontiers in Endocrinology, 2024
Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.
Madigan KE et al.
Pharmaceuticals (basel, Switzerland), 2023
A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.
Li Q et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2023
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
Portich JP et al.
Journal of Pediatric Hematology/oncology, 2023
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J et al.
Nature Reviews. Genetics, 2023
How I treat erythropoietic protoporphyria and X-linked protoporphyria.
Leaf RK et al.
Blood, 2023
A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
Moshayedi A et al.
Pediatric Dermatology, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 2022
The role of the genetic variant FECH rs11660001 in the occurrence of anti-tuberculosis drug-induced liver injury.
Zhang M et al.
Journal of Clinical Pharmacy and Therapeutics, 2022
Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.
Hagiwara S et al.
Scientific Reports, 2022
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile.
Fang Y et al.
Frontiers in Medicine, 2022
Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.
Granata F et al.
Frontiers in Physiology, 2022
Hematopoietic cell transplant for reversal of liver fibrosis in a pediatric patient with erythropoietic protoporphyria.
Hashmi SK et al.
Pediatric Transplantation, 2021
Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.
Noyman Y et al.
Photodermatology, Photoimmunology & Photomedicine, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S et al.
Haematologica, 2021
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Linenberger M et al.
Hematology. American Society of Hematology. Education Program, 2020
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P et al.
European Journal of Dermatology : Ejd, 2020
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.
Halloy F et al.
Nucleic Acids Research, 2020
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.
Chiara M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
Phillips J et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.
Kieke MC et al.
Molecular Genetics and Metabolism Reports, 2019