Results 111 to 120 of about 4,216 (156)

Unraveling Protracted Neuropsychiatric Symptoms in a Patient With Altered Post-Bariatric Pharmacokinetics: A Diagnostic Puzzle. [PDF]

Case Rep Psychiatry
Ali A, Potts CE, May D.
europepmc   +1 more source

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source

[A case of acute hepatic porphyria].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1984
P, Knosała, T, Petelenz, I, Zuk-Popiołek   +2 more
openaire   +1 more source

A Diagnostic Challenge in the Emergency Department: Acute Intermittent Porphyria Unmasked After Cabergoline Exposure. [PDF]

Cureus
Mina C, Ghanem H, Matar N.
europepmc   +1 more source

A Case Report of Acute Intermittent Porphyria Accompanied by Severe Peripheral Neuropathy. [PDF]

Diagnostics (Basel)
Liu Y, Cao J, Han F, Chen Q, You H, Zhu H, Li Y, Liu A, Yang J.   +8 more
europepmc   +1 more source

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Givosiran for the treatment of acute hepatic porphyria

Expert Review of Clinical Pharmacology, 2022
Acute 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 ...
Paolo Ventura, Paolo Ventura, Andrea Ricci   +2 more
exaly   +3 more sources

Neurology of the acute hepatic porphyrias

Journal of the Neurological Sciences, 2021
Porphyrias 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 ...
Oliveira Santos, Miguel, Leal Rato, Miguel   +1 more
openaire   +3 more sources

Treatment of Acute Hepatic Porphyria

Lancet, The, 1978
C J Watson
exaly   +9 more sources