Results 61 to 70 of about 1,644 (213)

Epilepsy: Molecular Pathogenesis and Emerging Therapies

MedComm, Volume 7, Issue 4, April 2026.
Progress has been made in the molecular pathogenesis of epilepsy, revealing multiple therapeutic targets. Recent advances in pharmacology, materials science, and surgical technique, coupled with progress in targeted therapy and disruptive epilepsy network technology, have led to the emergence of innovative strategies for epilepsy treatment.
Wanbin Huang, Jiabin Zong, Yu Zhang, Ming Li, Songqing Pan, Zheman Xiao   +5 more
wiley   +1 more source

The porphyrias: Advances in diagnosis and treatment [PDF]

, 2012
The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases.
Robert J Desnick, Manisha Balwani
core  

A pragmatic, multicentre, double-blind, placebo-controlled randomised trial to assess the safety, clinical and cost-effectiveness of mirtazapine and carbamazepine in people with Alzheimer’s disease and agitated behaviours: the HTA-SYMBAD trial

Health Technology Assessment, 2023
Background Agitation is common and impacts negatively on people with dementia and carers. Non-drug patient-centred care is first-line treatment, but we need other treatment when this fails.
Sube Banerjee, Nicolas Farina, Catherine Henderson, Juliet High, Susan Stirling, Lee Shepstone, Julia Fountain, Clive Ballard, Peter Bentham, Alistair Burns, Chris Fox, Paul Francis, Robert Howard, Martin Knapp, Iracema Leroi, Gill Livingston, Ramin Nilforooshan, Shirley Nurock, John O’Brien, Annabel Price, Alan J Thomas, Ann Marie Swart, Tanya Telling, Naji Tabet   +23 more
doaj   +1 more source

Advancing the Landscape of RNAi Nanotherapeutics for Ischemic Heart Disease

Advanced Materials, Volume 38, Issue 17, 20 March 2026.
RNA interference (RNAi) nanomedicine revolutionizes treatment regimens for ischemic heart diseases by enabling tailored, sequence‐anchored gene regulation. This review highlights the recent advances in nanotechnology‐driven RNAi therapeutics for myocardial ischemia and discusses the key design principles that govern efficient delivery, providing ...
Han Gao, Da Pan, Hélder A. Santos
wiley   +1 more source

The porphyrias

, 2011
The porphyrias are metabolic diseases resulting from deficiency, or in one disease, an increase in the activity, of specific enzymes in the haem biosynthetic pathway (1, 2).
Michael N. Badminton, George H. Elder
core   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Wang, Bruce, Bonkovsky, Herbert L, Brent Cengia, Herbert L. Bonkovsky, Rudnick, Sean, Bruce Wang, Sean Rudnick, Cengia, Brent   +7 more
core   +1 more source

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

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

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 more
wiley   +1 more source

Porphyrias: clinical presentation, diagnosis and treatment

, 2010
As porfirias são doenças incomuns e de herança genética na maior parte dos casos. As porfirias são divididas em eritropoiéticas, hepáticas agudas e hepáticas crônicas.
Dinardo, Carla Luana, Gualandro, Sandra Fátima Menosi, Chamone, Dalton de Alencar Fischer, Fonseca, Guilherme Henrique Hencklain, Suganuma, Liliana Mitie   +4 more
core   +1 more source