Results 31 to 40 of about 1,551 (185)
Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]
, 2021 Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci +3 more
core +1 more source
Acute intermittent porphyria, givosiran, and homocysteine
Journal of Inherited Metabolic Disease, 2021 Acute intermittent porphyria (AIP) is a rare genetic metabolic disease caused by a specific enzyme dysfunction in the hepatic heme biosynthesis pathway. Besides the obvious clinical relevance of a disease in which patients are at risk of acute life-threatening neurovisceral attacks, the study of this disorder is of particular interest because it can ...
Antonio Fontanellas +4 more
openaire +4 more sources
JIMD Reports, 2023 A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran.
Christopher D. Ma +2 more
doaj +1 more source
Persistir y no desistir: diagnosticando un caso de porfiria aguda intermitente.
Galicia Clínica, 2023 Resumen: Mujer joven con antecedentes de asma y síndrome ansioso-depresivo con escasa adherencia al tratamiento, en seguimiento por Psiquiatría y Médico de Familia desde hace años.
Iván Fernández-Castro +1 more
doaj +1 more source
Medicinal Chemistry of Oligonucleotide Drugs - Milestones of the Past and Visions for the Future [PDF]
, 2022 The oligonucleotide therapeutics field has blossomed in recent years, with thirteen approved drugs today and the promise of accelerated growth in coming years.
Ashkinadze, Anastasia +7 more
core +2 more sources
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria [PDF]
Journal of Internal Medicine, 2022 AbstractAcute hepatic porphyria (AHP) is a group of inherited metabolic disorders that affect hepatic heme biosynthesis. They are associated with attacks of neurovisceral manifestations that can be life threatening and constitute what is considered an acute porphyria attack.
Eliane Sardh, Pauline Harper
openaire +2 more sources
Givosiran for the Treatment of Pediatric Acute Intermittent Porphyria. [PDF]
J Pediatr Hematol OncolAcute intermittent porphyria (AIP) causes neurovisceral symptoms and organ toxicity resulting in acute and chronic health conditions. Treatment has traditionally involved avoiding triggers and utilizing carbohydrates and hemin infusions for acute attacks. Givosiran, an FDA-approved small interfering RNA, has shown benefit in adults in reducing attacks.
Bujold KE, Kasher N, McKiernan C.
europepmc +4 more sources
Acute hepatic porphyria - classification, diagnosis and treatment [PDF]
, 2022 Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway.
Czekaj, Aleksandra +4 more
core +2 more sources
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.
Andant +40 more
core +1 more source
Site Selective Antibody-Oligonucleotide Conjugation via Microbial Transglutaminase. [PDF]
, 2019 Nucleic Acid Therapeutics (NATs), including siRNAs and AntiSense Oligonucleotides (ASOs), have great potential to drug the undruggable genome. Targeting siRNAs and ASOs to specific cell types of interest has driven dramatic improvement in efficacy and ...
Cui, Xianshu +6 more
core +1 more source