Results 71 to 80 of about 1,411 (134)

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms.
Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, Marianne T. Sweetser, Jiaan-Der Wang   +4 more
doaj   +1 more source

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management

Clinical and Experimental Gastroenterology
Manish Thapar,1 Akash Singh,2 Kevin M Robinson,3 Herbert L Bonkovsky4 1Division of Hepatology, Jefferson- Einstein Medical Center, Philadelphia, PA, USA; 2Department of Medicine, Jefferson- Einstein Medical Center Montgomery, East Norriton, PA, USA ...
Thapar M, Singh A, Robinson KM, Bonkovsky HL   +3 more
doaj  

Coexistence of Familial Mediterranean Fever and Acute Intermittent Porphyria

The Turkish Journal of Gastroenterology, 2012
A 19-year-old woman in her sixth month of pregnancy was referred to our clinic with stabbing chest pain, abdominal pain, fatigue, fever, and joint pain. She was pale, and distressed, and her body temperature was 38.5 °C.
Faruk AKTÜRK, Yaşar ÇALIŞKAN, Bahar ESEN   +2 more
doaj  

P024: Next generation sequencing in the diagnosis of acute hepatic porphyrias (AHP): Unraveling the molecular basis of AHP in Brazilian patients

Genetics in Medicine Open, 2023
Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca   +4 more
doaj   +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

Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias. [PDF]

Biosci Rep
Schedlbauer A, Kratzwald S, Gómez-Galán M, Gil-Martínez J, San Juan I, Pereira-Ortuzar T, Lopitz-Otsoa F, Fernandez-Ramos D, Mato JM, Millet O.   +9 more
europepmc   +1 more source

Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report. [PDF]

Cureus
Thanigasalan M.
europepmc   +1 more source