Results 71 to 80 of about 129 (113)
[Acute intermittent hepatic porphyria].
Srpski arhiv za celokupno lekarstvo, 1975 M, Zamlakar +2 more
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[A case of acute hepatic porphyria].
Wiadomosci lekarskie (Warsaw, Poland : 1960), 1984 P, Knosała +2 more
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Neurology of the acute hepatic porphyrias
Journal of the Neurological Sciences, 2021Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent ...
MIGUEL Oliveira Santos, MIGUEL Leal Rato
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Givosiran for the treatment of acute hepatic porphyria
Expert Review of Clinical Pharmacology, 2022Acute hepatic porphyrias (AHPs) are a family of rare inherited disorders characterized by enzyme dysfunctions in the hepatic pathway of heme biosynthesis. In AHPs, accumulation of the neurotoxic porphyrin precursors delta-aminolevulinic acid and porphobilinogen, caused by enhanced activity of hepatic aminolevulinate synthase 1 (ALAS1), is associated ...
Andrea Ricci, Paolo Ventura
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Givosiran: A Review in Acute Hepatic Porphyria
Drugs, 2021Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the phase 3 ENVISION trial, givosiran significantly reduced the annualized rate of composite porphyria attacks (i.e.
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The “glucose effect” in acute hepatic porphyrias and in experimental porphyria
Klinische Wochenschrift, 1981The "glucose effect" was investigated in human acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, coproporphyria and porphobilinogen synthase defect porphyria) and in avian liver cells. 8 patients (7 women) with acute abdominal-neurological porphyria syndrome and 3 patients (2 women) in the remission phase were treated with ...
M, Doss, F, Verspohl
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Medizinische Klinik, Intensivmedizin und Notfallmedizin, 2023
Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic metabolites lead to multisystemic symptoms such as visceral pain, autonomic dysregulation, neurocognitive impairment, hyponatremia, and occasionally motor paralysis.
Friedhelm, Sayk, Lars, Grasshoff
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Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic metabolites lead to multisystemic symptoms such as visceral pain, autonomic dysregulation, neurocognitive impairment, hyponatremia, and occasionally motor paralysis.
Friedhelm, Sayk, Lars, Grasshoff
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Acute Hepatic Porphyrias and Primary Liver Cancer
New England Journal of Medicine, 1998Hervé Puy +2 more
exaly +3 more sources
1981
The acute hepatic porphyrias are the result of hereditary partial deficiencies of individual enzymes in the pathway of haem biosynthesis. Seven enzymes are known to be involved in the pathway, converting glycine and succinyl CoA first to porphyrin precursors and then to porphyrins and finally to haem. The rate of the process is regulated by the initial
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The acute hepatic porphyrias are the result of hereditary partial deficiencies of individual enzymes in the pathway of haem biosynthesis. Seven enzymes are known to be involved in the pathway, converting glycine and succinyl CoA first to porphyrin precursors and then to porphyrins and finally to haem. The rate of the process is regulated by the initial
openaire +2 more sources