Associated Papers
Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
Peshin S et al.
Reports (mdpi), 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.
Jia N et al.
Frontiers in Genetics, 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
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.
Peterlin P et al.
Skin Health and Disease, 2024
Congenital Erythropoietic Porphyria: A Rare Inherited Disorder.
Saikrishna P et al.
Cureus, 2024
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Goudet C et al.
Life (basel, Switzerland), 2024
Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Desjardins MP et al.
Clinical Pediatrics, 2023
Perinatal onset of severe congenital erythropoietic porphyria.
Khalouaoui A et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2023
The use of pharmacological chaperones in rare diseases caused by reduced protein stability.
Gil-Martínez J et al.
Proteomics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
An Atypical Case of Congenital Erythropoietic Porphyria.
Sudrié-Arnaud B et al.
Genes, 2021
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Blouin JM et al.
Molecular Genetics and Metabolism Reports, 2021
Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.
Bhusal M et al.
Jaad Case Reports, 2021
Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.
de Souza PVS et al.
Frontiers in Neuroscience, 2021
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Prat F et al.
Stem Cell Reports, 2020
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: Recent advances.
Erwin AL 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.
Uittenbogaard M et al.
Molecular Genetics and Metabolism, 2019
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Tchaikovskii V et al.
Molecular Medicine (cambridge, Mass.), 2019
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.
Medina-Carmona E et al.
Human Molecular Genetics, 2019
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Urquiza P et al.
Science Translational Medicine, 2018
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.
Podlipnik S et al.
The British Journal of Dermatology, 2018
[Congenital erythropoietic porphyria: case report and management recommendations].
Salomone B C et al.
Archivos Argentinos De Pediatria, 2018
Neonatal hemolytic anemia does not always indicate thalassemia: a case report.
Al-Harazi AA et al.
Bmc Research Notes, 2017
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.
Howard M et al.
Dermatology Online Journal, 2017
Segment swapping aided the evolution of enzyme function: The case of uroporphyrinogen III synthase.
Szilágyi A et al.
Proteins, 2017
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Aguilera P et al.
The British Journal of Dermatology, 2016
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
Fityan A et al.
Clinical and Experimental Dermatology, 2016
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
[Porphyrias and haem related disorders].
Peoc'h K et al.
La Revue De Medecine Interne, 2016
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Egan DN et al.
Blood, 2015
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS et al.
Current Protocols in Human Genetics, 2015
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Di Pierro E et al.
European Journal of Haematology, 2015
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
Glomglao W et al.
International Journal of Laboratory Hematology, 2015
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
ben Bdira F et al.
Human Molecular Genetics, 2014
[Hereditary porphyrias and heme related disorders].
Puy H et al.
Bulletin De L'academie Nationale De Medecine, 2014
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Blouin JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013