Results 61 to 70 of about 129 (113)

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

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

[The course of acute hepatic porphyria].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1999
Acute hepatic porphyrias are the diseases dependent on the congenital metabolic defects of the hem biosynthesis. The diagnosis of porphyria only on the grounds of clinical picture is extremely difficult as it is presented by the variety of symptoms, often imitating other diseases.
W, Kucharski, E, Kostrzewska, W, Zawadzki   +2 more
openaire   +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  

Acute hepatic porphyria [PDF]

, 2020
openaire   +1 more source

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

[Acute hepatic porphyria].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1975
openaire   +1 more source

[Acute hepatic porphyria. II].

Acta haematologica Polonica, 1988
E, Kostrzewska, A, Gregor
openaire   +1 more source