Results 51 to 60 of about 27,170 (181)

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules, 2023
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips   +5 more
doaj   +1 more source

Erythropoietic protoporphyria in a child.

, 1989
Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective ...
Cornu, Guy, Hassoun, A., Bourlond, André, Piotte, M   +3 more
core   +1 more source

Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report

International Journal of Dermatology and Venerology, 2023
Introduction:. Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH). We herein report a case of EPP associated with 2 novel mutations in FECH. Case presentation:.
Qi Tan, Hui-Fang Yang, Li-Fang Lan, Ling Xie, Ru-Bing Lin, Chun-Lei Wan, Long-Nian Li   +6 more
doaj   +1 more source

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel [PDF]

, 2007
Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet,
Sigurdsson, Vigfus, Weelden, H. van, Kuck-Koot, V.C.M., Lecluse, Anne L. Y., Lecluse, A.L.Y., Frank, J., Pasmans, Suzanne G. M. A., Pasmans, S.G.M.A., Russel, Ingrid M., Kuck-Koot, Veronica C. M., Sigurdsson, V., van Weelden, Huib, Frank, Jorge, Russel, I.M., Anne L. Y. Lecluse, Huib van Weelden, Vigfus Sigurdsson, Ingrid M. Russel, Veronica C. M. Kuck-Koot, Suzanne G. M. A. Pasmans, Jorge Frank   +20 more
core   +1 more source

A low‐cost handheld device for monitoring cutaneous photosensitivity

Photochemistry and Photobiology, EarlyView.
The cutaneous photosensitivity detection (CPD) device is a handheld contact‐based measurement device using 405 nm excitation and red fluorescence detection for monitoring skin phototoxicity risk after photodynamic therapy (PDT) procedures involving systemic aminolaevulinic acid (ALA) induced protoporphyrin IX (PpIX) photosensitization.
Md Asaduzzaman Rasel, Ryan Beland, Shakir Khan, Tayyaba Hasan, Jonathan P. Celli   +4 more
wiley   +1 more source

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

Dermatology Reports, 2023
We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi   +8 more
doaj   +1 more source

Iron Homeostasis and Liver Diseases

Journal of Cellular and Molecular Medicine, Volume 30, Issue 20, October 2026.
ABSTRACT Iron is an essential micronutrient whose ability to cycle between ferric (Fe3+) and ferrous (Fe2+) states makes it crucial for physiological processes, including oxygen transport, DNA synthesis, and oxidative phosphorylation. However, because both deficiency and excess can cause severe pathology, precise regulation is critical. The liver plays
Peng Yang, Zhitian Shi, Qin Huang, Zhihong Tu, Yue Sun, Lin Wang, Yonglong Wei   +6 more
wiley   +1 more source

Exonic deletions as a cause of erythropoietic protoporphyria

, 2006
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH), the terminal enzyme of haem biosynthesis.
McKenna, Kevin, Badminton, Michael Norman, Wood, Lisa H., Whatley, Sharon D.   +3 more
core   +1 more source

Bone marrow-derived cells promote liver regeneration in mice with erythropoietic protoporphyria [PDF]

, 2009
Background: Bone marrow transplantation can reverse hepatic protoporphyrin accumulation and prevent the hepatobiliary complications characteristic of erythropoietic protoporphyria.
de Salamanca, RE, Segovia, JC, Guti??rrez-Vera, I, Fontanellas, A, Garc??a-Bravo, M, Quintana-Bustamante, O, Mor??n-Jim??nez, MJ, M??nde, M, Bueren, JA, Salido, E, Gutiérrez-Vera, I, García-Bravo, M, Morán-Jiménez, MJ, Ménde, M   +13 more
core   +3 more sources

Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]

, 2010
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity.
Xiaoye Schneider-Yin, Haldemann, Andreas R, Minder, Elisabeth I, Elisabeth I. Minder, Schneider-Yin, Xiaoye, Andreas R. Haldemann   +5 more
core   +1 more source