دورية أكاديمية

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

التفاصيل البيبلوغرافية
العنوان: Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report
المؤلفون: Pierre Peterlin, Julia Bonnelye, Alice Garnier, Amandine Le Bourgeois, Thierry Guillaume, Maxime Jullien, Hervé Dutartre, Marie Le Moigne, Caroline Schmitt, Laurent Gouya, Antoine Poli, Sebastien Barbarot, Patrice Chevallier
المصدر: Skin Health and Disease, Vol 4, Iss 2, Pp n/a-n/a (2024)
بيانات النشر: Wiley, 2024.
سنة النشر: 2024
المجموعة: LCC:Dermatology
مصطلحات موضوعية: Dermatology, RL1-803
الوصف: Abstract Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo‐SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46‐year old man with CEP with a 5‐year follow‐up after Allo‐SCT.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2690-442X
Relation: https://doaj.org/toc/2690-442X
DOI: 10.1002/ski2.342
URL الوصول: https://doaj.org/article/ac9c6284044848508d9dfc030f859de4
رقم الأكسشن: edsdoj.9c6284044848508d9dfc030f859de4
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2690442X
DOI:10.1002/ski2.342