Results 81 to 90 of about 31,642 (216)

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases

Orphanet Journal of Rare Diseases
Porphyria is a group of rare metabolic disorders caused by mutations in the genes encoding crucial enzymes in the heme biosynthetic pathway. However, the lack of comprehensive genetic analysis of porphyria patients in the Chinese population makes ...
Yinan Wang, Nuoya Li, Songyun Zhang
doaj   +1 more source

Case Report: Managing Acute Porphyria during Acute Leukemia [PDF]

, 2023
L. Montès, Alexis Caulier, Pierre Morel, Magalie Joris, J. Schmidt, Jean‐Pierre Marolleau, B Galmiche, Delphine Lebon   +7 more
openalex   +1 more source

Reply to ‘Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement’

JEADV Clinical Practice, Volume 4, Issue 5, Page 1244-1245, December 2025.
Prajwal Pudasaini, Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das   +4 more
wiley   +1 more source

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions

Journal of Nepal Health Research Council, 2019
Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation ...
Niraj Parajuli, Harendra Kumar Jha, Marcel F Jonkman   +2 more
doaj   +1 more source

Needle in a Haystack: Acute intermittent Porphyria, an often-missed differential diagnosis of abdominal pain

, 2023
Afoma Onyechi, Jessica Ohemeng‐Dapaah, W. Shaba, Mosunmoluwa Oyenuga, Alexandre Lacasse, Sandeep Sen, Amar Jadhav, Vikas Kumar, Aditya Pante   +8 more
openalex   +2 more sources

Quality and duration of responses with mogamulizumab in cutaneous T‐cell lymphomas: Insights into long‐lasting outcomes

British Journal of Haematology, Volume 207, Issue 6, Page 2578-2582, December 2025.
Alessandro Broccoli, Lisa Argnani, Alessandro Pileri, Camilla Mazzoni, Benedetta Sordi, Nicola Pimpinelli, Paolo Fava, Pietro Quaglino, Elsa Pennese, Tommasina Perrone, Andrea Bernardelli, Carlo Visco, Miriam Teoli, Leonardo Flenghi, Adalberto Ibatici, Cesare Massone, Pier Luigi Zinzani   +16 more
wiley   +1 more source

Desensitization in patients with hypersensitivity to haem arginate: A case report

World Allergy Organization Journal, 2019
Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman, Drixie Leal, Eugenio Matijasevic, Elizabeth García   +3 more
doaj   +1 more source

A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue [PDF]

Acta Medica Iranica, 1959
A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj  

Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4‐aminoquinoline antimalarials: a meta‐analysis

British Journal of Dermatology, 2018
Porphyria cutanea tarda (PCT) is the most common human porphyria. It is caused by hepatic deficiency of uroporphyrinogen decarboxylase activity, which is acquired in the presence of multiple susceptibility factors.
H. Salameh, H. Sarairah, M. Rizwan, Y.‐F. Kuo, Karl E. Anderson, A. Singal   +5 more
semanticscholar   +1 more source

Early diagnosis of porphyria cutanea tarda as a key to avoiding scarring – a mild form of the disease

Przegląd Dermatologiczny, 2019
Porphyria cutanea tarda belongs to the group of porphyrias. Porphyria is a heme disorder caused by an acquired or congenital defect of hepatic enzymes. This consequently leads to the accumulation of porphyrins in various organs.
Marcela Nowak, Dorota Mehrholz, Wioletta Barańska-Rybak, Roman Nowicki   +3 more
doaj   +1 more source