Results 51 to 60 of about 21,981 (227)

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [PDF]

, 2019
BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Desnick, Robert J, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Singal, Ashwani, Wang, Bruce   +10 more
core   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

Life, 2023
In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder, Xiaoye Schneider-Yin, Henryk Zulewski, Christoph E. Minder, Elisabeth I. Minder   +4 more
doaj   +1 more source

δ-Aminolevulinic acid cytotoxic effects on human hepatocarcinoma cell lines [PDF]

, 2002
BACKGROUND: Acute Intermittent Porphyria is a genetic disorder of heme metabolism, characterized by increased levels of porphyrin precursors, delta-aminolevulinic acid (ALA) and porphobilinogen (PBG).
Adriana De Siervi, Elba S Vazquez, Carolina Rezaval, María V Rossetti, Alcira M del Batlle, LA Wetterberg, C AM del Batlle, A De Siervi, JA Stein, HL Bonkowsky, EA Wider de Xifra, F Lithner, L Hardell, R Kauppinen, J Onuki, DP Aden, BB Knowles, GJ Darlington, B Bressac, JK Wilson, P Chomczynski, T Douki, A Batlle, S Helson, R Washbrook, F Wagener, K Nath, V Russel, MC Raff, SW Lowe, L Meijer, M Garrett   +31 more
core   +4 more sources

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Psychiatric Disorder in Porphyria: A Case Series

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Porphyria is a group of rare genetic disorders that affect the heme production pathway due to specific enzyme abnormalities. These conditions present diverse clinical symptoms, including gastrointestinal, neurovisceral, cutaneous, neurological, and ...
Poulomi Ghosh, Prashant Bhardwaj, Suprakash Chaudhury, Alisha Kumari   +3 more
doaj   +1 more source

THE PORPHYRIAS

British Medical Bulletin, 1968
No abstract available.
openaire   +4 more sources

A family with acute intermittent porphyria [PDF]

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Skin Fragility and Hyperpigmentation in a Patient With HIV

JEADV Clinical Practice, EarlyView.
Catalina Retamal, Maximiliano Maass, María Fernanda Martin   +2 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source