Results 71 to 80 of about 22,097 (228)

Acute Intermittent Porphyria: Pathophysiology and Treatment [PDF]

, 1984
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90337/1/j.1875-9114.1984.tb03340.x ...
Anderson, Badawy, Battersby, Berman, Bickers, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bonkowsky, Bottomley, Cavanagh, Cowger, Dhar, Dhar, Disler, Doss, Douer, Eales, Eales, Elsman, Eyck, Felsher, Giger, Granick, Granick, Hanstein, Hellman, Heubel, Kappas, Kappas, Lamon, Lamon, Liem, Ludwig, Magnussen, Magnussen, Massey, Matteis, Mauzerall, McColl, McColl, Menawat, Moore, Moore, Morris, Muller-Eberhard, Muller-Eberhard, Muller-Eberhard, Mustajoki, Nielsen, Nyman, Ohnhaus, Parikh, Pass, Perlroth, Peterson, Reynolds, Ridley, Rifkind, Rizk, Rose, Snyder, Stein, Strand, Sweeny, Tait, Treece, Tschudy, Tschudy, Tschudy, Verneuil, Watson, Watson, Watson, Welland, Wetterberg   +76 more
core   +1 more source

Acute intermittent porphyria case in clinical practice internist

Journal of Education, Health and Sport, 2019
Porphyria is group of eight metabolic disorders characterized by defects in hemebiosynthesis. The presentation of porphyria is highly variable, and the symptoms are non specific, which accounts in part for delay sinestablishing a diagnosis.
V. V. Chopyak, Y. F. Tolstyak
doaj   +3 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

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

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

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Determination of Dental Lesions in Dairy Cattle and Immunochemical Detection of the Biomarker Decorin in Gingival Crevicular Fluid of Dairy Cattle

Veterinary Medicine and Science, Volume 12, Issue 2, March 2026.
This study identified dental and gingival lesions in dairy cattle, revealing the significance of routine periodontal assessment for animal welfare. Decorin levels in GCF samples were compared between healthy and diseased cattle, indicating its potential as a non‐invasive biomarker for dental inflammation.
Nihan AVCI
wiley   +1 more source

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

Suspicious minds : the dramatisation of paranoia in Victorian poetry : a thesis presented in partial fulfilment of the requirements for the degree of Master of Arts in English at Massey University [PDF]

, 1999
This thesis contains readings of a number of Victorian poems by Alfred Tennyson, Robert Browning and Dante Gabriel Rossetti which dramatise paranoia and jealousy.
Frost, Sarah Lee
core  

A review of photodiagnostic investigations over 26 years:experience of the National Scottish Photobiology Service (1989-2015) [PDF]

, 2017
Background The Scottish Photobiology Service is the national referral pathway for patients with cutaneous photosensitivity diseases in Scotland. We reviewed the pattern of diagnosis of photosensitivity diseases and investigations performed between 1989 ...
Dawe, Robert, Ibbotson, Sally, Moseley, Harry, Naasan, Hannah   +3 more
core   +3 more sources