Results 111 to 120 of about 3,950 (159)

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 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 of acute hepatic porphyria].

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

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis. [PDF]

Mol Genet Metab Rep
Vizerov T, Demina N, Ponomarev R, Lukina E, Pshenichnikova O, Selivanova D, Tabakov V, Ryzhkova O.   +7 more
europepmc   +1 more source

Right Gonadal Vein Thrombosis in Acute Intermittent Porphyria: A Rare Thrombotic Complication. [PDF]

Cureus
Goranti J, Neri Rosario D, Chohonis K.
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 ...
Andrea Ricci, Paolo Ventura
exaly   +3 more sources

Treatment of Acute Hepatic Porphyria

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

ACUTE HEPATIC PORPHYRIA IN POLAND

Lancet, The, 1982
A Gregor
exaly   +3 more sources