Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (
Bruce Wang +8 more
doaj +5 more sources
Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications [PDF]
Diagnostics, 2021 Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci +4 more
doaj +3 more sources
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives [PDF]
Orphanet Journal of Rare Diseases, 2022 Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci +5 more
doaj +2 more sources
A era dos medicamentos de ARN interferência: o panorama clínico dos fármacos para silenciamento génico [PDF]
Saúde & Tecnologia, 2022 Oligonucleotídeos sintéticos, como os small interfering RNAs (siRNAs), providenciam uma forma simples e eficiente de modular a expressão de qualquer gene.
Bruno M. D. C. Godinho +1 more
doaj +3 more sources
Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria [PDF]
Case Reports in TransplantationAcute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides +5 more
doaj +2 more sources
Journal of the Formosan Medical AssociationBackground/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Hung-Chou Kuo +2 more
exaly +3 more sources
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht +6 more
doaj +2 more sources
Small RNA or oligonucleotide drugs and challenges in evaluating drug-drug interactions [PDF]
Frontiers in PharmacologySmall RNA or oligonucleotide therapeutics represent a unique modality outside the traditional treatment paradigm of small molecule and protein-based drugs that have historically only targeted a small fraction of the proteome.
Joseph M. Cronin, Ai-Ming Yu
doaj +2 more sources
A Comparison of Currently Approved Small Interfering RNA (siRNA) Medications to Alternative Treatments by Costs, Indications, and Medicaid Coverage [PDF]
PharmacySmall interfering RNA (siRNA)-based medications offer the ability to target previously undruggable targets and have now received FDA approval in five instances for orphan or uncommon diseases.
Inder Sehgal, Kevin Eells, Imani Hudson
doaj +2 more sources
Discovery platforms for RNA therapeutics [PDF]
British Journal of Pharmacology, Volume 182, Issue 2, Page 281-295, January 2025.: RNA therapeutics are emerging as a unique opportunity to drug currently "undruggable" molecules and diseases. While their advantages over conventional, small molecule drugs, their therapeutic implications and the tools for their effective in vivo ...
Braga, Luca +2 more
core +2 more sources