Results 61 to 70 of about 1,411 (134)
Liver Cirrhosis Induced by Porphyria Cutanea Tarda: A Case Report and Review
Gut and Liver, 2010 Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial,
doaj +1 more source
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 +5 more
wiley +1 more source
Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
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Gallbladder Dysfunction Diagnosed by Cholescintigraphy with a Fatty Meal
Gut and Liver, 2010 Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial,
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
Neurofilament light chain as a biomarker for acute hepatic porphyrias
Frontiers in NeurologyBackgroundAcute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential ...
Paulo Sgobbi +10 more
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Acute hepatic porphyria: when to perform liver transplantation?
Medicina, 2021 Acute hepatic porphyrias (AHPs) are inborn errors of hemebiosynthesis and its most common and severe type is the acute intermittent porphyria (AIP). AIP is an hereditary autosomal dominant disease caused by accumulated porphobilinogen deaminase (PBG) and
Maria Eugênia Carinhani de Cico +4 more
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Benefits of prophylactic heme therapy in severe acute intermittent porphyria
Molecular Genetics and Metabolism Reports, 2019 Acute intermittent porphyria (AIP), an autosomal dominant inborn error of metabolism, is the most common and severe form of the acute porphyrias. Attacks of severe abdominal pain, often with hypertension, tachycardia, are cardinal features of AIP, often ...
Pradeep Yarra +4 more
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Molecular Genetics and Metabolism ReportsAcute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet +11 more
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Molecular Genetics and Metabolism ReportsAcute hepatic porphyrias (AHPs) are a family of rare, autosomal, dominantly inherited conditions characterized by abnormalities in the production of heme.
Claudio Carmine Guida +8 more
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