Results 11 to 20 of about 36,453 (301)

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

New England Journal of Medicine, 2020
BACKGROUND Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute attacks and chronic symptoms in acute hepatic ...
M. Balwani, Eliane Sardh, P. Ventura, P. A. Peiró, D. Rees, U. Stölzel, D. Bissell, H. Bonkovsky, J. Windyga, K. Anderson, C. Parker, S. Silver, Siobán B. Keel, Jiaan-Der Wang, P. Stein, P. Harper, Daphne Vassiliou, Bruce Wang, J. Phillips, A. Ivanova, J. Langendonk, R. Kauppinen, E. Minder, Y. Horie, C. Penz, Jihong Chen, Shangbin Liu, John J Ko, M. Sweetser, P. Garg, A. Vaishnaw, Jae B. Kim, A. Simon, L. Gouya, Envision Investigators   +34 more
semanticscholar   +3 more sources

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H   +3 more
doaj   +3 more sources

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo [PDF]

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 more
doaj   +3 more sources

Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome

Medicine, 2018
Introduction: Acute intermittent porphyria (AIP) is a rare and challenging hereditary neurovisceral disease with no specific symptoms. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome with bilateral reversible ...
Xueping Zheng, Xuejun Liu, Yan Wang, Renliang Zhao, Lintao Qu, Haitao Pei, Miao Tuo, Yong Zhang, Yuqiang Song, Xiaojun Ji, Hongyun Li, Liou Tang, Xinbao Yin   +12 more
openalex   +2 more sources

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome [PDF]

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +2 more sources

Mortality in Pedigrees with Acute Intermittent Porphyria [PDF]

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +2 more sources

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria. [PDF]

Life (Basel), 2023
Di Pierro E, Perrone M, Franco M, Granata F, Duca L, Lattuada D, De Luca G, Graziadei G.   +7 more
europepmc   +3 more sources

Acute Intermittent Porphyria [PDF]

Emergency Medicine, 2016
Antonio Dajer, Louis Cooper
openaire   +2 more sources

Claw hands in acute intermittent porphyria. [PDF]

Oxf Med Case Reports
Wang JD, Chou CT.
europepmc   +2 more sources

«PURPLE MYSTERY» OR SIXTEEN-YEAR-OLD GIRL`S ACUTE INTERMITTENT PORPHYRIA

Мать и дитя в Кузбассе, 2019
The Patient G., 16 years old with polymorphic nonspecific complaints, since 2011. Objective – to analyse rare clinical case of the manifestation of acute intermittent porphyria (AIP) of sixteen-year-old girl, to trace the sequence of increase of ...
Елена Алексеевна Беседина, Наталья Вячеславовна Кравцова, Павел Евгеньевич Анчутин, Дарья Юрьевна Беседина, Валерия Дмитриевна Нечаева, Аделина Юсуфовна Юсуфова, Баттал Нурадинович Алиев   +6 more
doaj   +1 more source