Results 111 to 120 of about 3,479 (173)

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity. [PDF]

Front Genet
Lei JJ, Li S, Dong BX, Yang J, Ren Y.
europepmc   +1 more source

Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis. [PDF]

Cureus
Norman J, Soliman M.
europepmc   +1 more source

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran. [PDF]

J Clin Med
Kubisch I, Wohmann N, Wissniowski TT, Stauch T, Oettel L, Diehl-Wiesenecker E, Somasundaram R, Stölzel U.   +7 more
europepmc   +1 more source

Unveiling the Chameleon: A Case Report on Acute Intermittent Porphyria. [PDF]

Cureus
Shrestha M, Amin S, Reggio C, Pokhrel A, Munankami S, Nypaver J, Gupta R, Donato A.   +7 more
europepmc   +1 more source

A novel <i>HMBS</i> gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings. [PDF]

Front Genet
Dong W, Zeng B, Wang X, Zhang R, Huang P, Fan B, Yuan M, Li Z.   +7 more
europepmc   +1 more source

Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran. [PDF]

Mol Genet Metab Rep
Kuo HC, Ro LS, Lin CN, Chu CC, Liao MF, Chang HS.   +5 more
europepmc   +1 more source

Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman. [PDF]

Cureus
Ali M, Iqbal S.
europepmc   +1 more source

Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes. [PDF]

J Xenobiot
Zuccoli JR, Martínez MDC, Vallecorsa P, Buzaleh AM.   +3 more
europepmc   +1 more source

Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates. [PDF]

Gut
Córdoba KM, Jericó D, Jiang L, Collantes M, Alegre M, García-Ruiz L, Manzanilla O, Sampedro A, Herranz JM, Insausti I, Martinez de la Cuesta A, Urigo F, Alcaide P, Morán M, Martín MA, Lanciego JL, Lefebvre T, Gouya L, Quincoces G, Unzu C, Hervas-Stubbs S, Falcón-Pérez JM, Alegre E, Aldaz A, Fernández-Seara MA, Peñuelas I, Berraondo P, Martini PGV, Avila MA, Fontanellas A.   +29 more
europepmc   +1 more source