Results 61 to 70 of about 1,551 (185)

Pain in acute hepatic porphyrias: Updates on pathophysiology and management

Frontiers in Neurology, 2022
Acute hepatic porphyrias (AHPs) typically present with recurrent acute attacks of severe abdominal pain and acute autonomic dysfunction. While chronic symptoms were historically overlooked in the literature, recent studies have reported increased ...
Mohamed Kazamel, Elena Pischik, Robert J. Desnick   +2 more
doaj   +1 more source

Givosiran per al tractament de la porfíria hepàtica aguda [PDF]

, 2021
Givosiran; Porfíria hepàtica aguda; Malaltia minoritàriaGivosirán; Porfiria hepática aguda; Enfermedad minoritariaGivosiran; Acute hepatic porphyria; Minority diseaseLes porfíries són un grup de malalties metabòliques causades per una pèrdua de ...
Programa d'Harmonització Farmacoterapèutica
core  

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

Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report [PDF]

BACKGROUND: We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production ...
A. E. VAUDANO, A. PIETRANGELO, A. RICCI, E. DI PIERRO, E. PISCHIK, L. IUGHETTI, M. MARCACCI, M. MAZZOLI, P. BERGONZINI, P. VENTURA, S. MARCHINI, S. MELETTI   +11 more
core   +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

Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran. [PDF]

Intern Med
Hereditary coproporphyria (HCP) is caused by a partial deficiency of coproporphyrinogen oxidase during heme biosynthesis. Givosiran is approved for the treatment of acute hepatic porphyria. We herein report the case of a 47-year-old woman with HCP. Monthly givosiran administration improved her subjective symptoms and reduced her δ-aminolevulinic acid ...
Ozaki N, Hayashi Y, Kiyota A.
europepmc   +3 more sources

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Targeting polo-like kinase 1 in pediatric leukemia [PDF]

, 2020
Acute lymphoblastic leukemia (ALL) is one of the most common cancers among children in the world, with almost 90% complete remission rate after the primary treatment. However, some patients are resistant to treatment and some relapse later.
Goroshchuk, Oksana
core   +1 more source

The Immune Microenvironment in Liver Cancer: From Analysis to Targeting

Advanced Science, Volume 12, Issue 47, December 18, 2025.
This review explores how smart nanomedicines overcome the immunosuppressive tumor microenvironment in liver cancer. It details targeted delivery strategies and immune reprogramming mechanisms, including remodeling abnormal physiology, modulating metabolism, and inducing immunogenic cell death. The article highlights the paradigm shift toward multimodal
Jiaming Lan, Hao Li, Jian Xue, Yourong Duan, Jin Sun, Meng Niu   +5 more
wiley   +1 more source

Acute Hepatic Porphyrias: Recommendations for Diagnosis and Management with Real-World Examples [PDF]

, 2023
Acute hepatic porphyria (AHP) is a group of four rare inherited diseases, each resulting from a deficiency in a distinct enzyme in the heme biosynthetic pathway.
Anderson, Karl E., Dickey, Amy, Erwin, Angelika, Leaf, Rebecca K., Moghe, Akshata, O\u27Brien, Alan, Quigley, John G., Thapar, Manish   +7 more
core   +1 more source