Cargando…

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2), respectively. The ubiquitous FECH catalyzes th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Di Pierro, Elena, Granata, Francesca, De Canio, Michele, Rossi, Mariateresa, Ricci, Andrea, Marcacci, Matteo, De Luca, Giacomo, Sarno, Luisa, Barbieri, Luca, Ventura, Paolo, Graziadei, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775248/ https://www.ncbi.nlm.nih.gov/pubmed/35054318 http://dx.doi.org/10.3390/diagnostics12010151

Ejemplares similares

Microcytosis in Erythropoietic Protoporphyria
por: Graziadei, Giovanna, et al.
Publicado: (2022)

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients
por: Granata, Francesca, et al.
Publicado: (2022)

Erythropoietic protoporphyria
por: Lecha, Mario, et al.
Publicado: (2009)

How I treat erythropoietic protoporphyria and X-linked protoporphyria
por: Leaf, Rebecca Karp, et al.
Publicado: (2023)

Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria
por: Genovese, Giovanni, et al.
Publicado: (2021)

Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure
por: Granata, Francesca, et al.
Publicado: (2021)

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria
por: Balwani, Manisha, et al.
Publicado: (2022)

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria
por: Naik, Hetanshi, et al.
Publicado: (2019)

The role of ClpX in erythropoietic protoporphyria
por: Whitman, Jared C., et al.
Publicado: (2018)

UK experience of liver transplantation for erythropoietic protoporphyria
por: Dowman, Joanna K., et al.
Publicado: (2011)

Laparoscopic Cholecystectomy in a Patient with Erythropoietic Protoporphyria
por: Roe, Thomas, et al.
Publicado: (2010)

Advances in the management of erythropoietic protoporphyria – role of afamelanotide
por: Lane, Ashley M, et al.
Publicado: (2016)

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria
por: Dickey, Amy K., et al.
Publicado: (2020)

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints
por: Tumminelli, Cristina, et al.
Publicado: (2023)

An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis
por: Kaur, Sarabjit, et al.
Publicado: (2019)

Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy
por: Yoshida, Akihiro, et al.
Publicado: (2018)

Erythropoietic protoporphyria: Delayed presentation with decompensated liver disease
por: Sarda, Radhika, et al.
Publicado: (2020)

Current trials in erythropoietic protoporphyria: are placebo controls ethical?
por: Barman-Aksözen, Jasmin, et al.
Publicado: (2023)

Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria
por: Teramura, Takashi, et al.
Publicado: (2017)

The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria
por: Wang, Pengcheng, et al.
Publicado: (2019)

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
por: Poli, Antoine, et al.
Publicado: (2023)

Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female
por: Wang, Helen C, et al.
Publicado: (2006)

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria
por: Park, Pyoung-Jae, et al.
Publicado: (2012)

Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland
por: McAloon, Conor G., et al.
Publicado: (2015)

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report
por: Kiberd, James, et al.
Publicado: (2018)

Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
por: Liu, Hui-Min, et al.
Publicado: (2019)

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria
por: Mizawa, Megumi, et al.
Publicado: (2017)

Microvascular Hepatic Artery Anastomosis in Living Donor Liver Transplantation for Erythropoietic Protoporphyria
por: Yamashita, Shuji, et al.
Publicado: (2020)

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria
por: Kieke, Michele C., et al.
Publicado: (2019)

Erythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You
por: Pastore, Larissa M, et al.
Publicado: (2022)

In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX
por: Sernicola, Alvise, et al.
Publicado: (2021)

Protection from phototoxic injury during laparoscopic surgery in patients with erythropoietic protoporphyria
por: Pielaciński, Konrad, et al.
Publicado: (2022)

Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria
por: Mathias, Susan D., et al.
Publicado: (2023)

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel
por: Lecluse, Anne L. Y., et al.
Publicado: (2007)

Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report
por: Wensink, Debby, et al.
Publicado: (2019)

Endoscopic thyroidectomy to minimize light exposure of an erythropoietic protoporphyria patient: A case report
por: Ishisaka, Tomo, et al.
Publicado: (2022)

PB1998: AZACYTIDINE AND ALLOGENOUS STEM CELL TRANSPLANTATION IN LATE-ONSET ERYTHROPOIETIC PROTOPORPHYRIA
por: Fassi, Daniel El, et al.
Publicado: (2023)

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice
por: Barman-Aksözen, Jasmin, et al.
Publicado: (2017)

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria
por: Halloy, François, et al.
Publicado: (2020)

Surgical treatment for breast cancer in a patient with erythropoietic protoporphyria and photosensitivity: a case report
por: Shimazaki, Akiko, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_su70l6hpq2lsetk7m22kpiq0ue