Feigning Acute Intermittent Porphyria [PDF]
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning
Rania Elkhatib +5 more
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Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria [PDF]
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides +5 more
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Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome [PDF]
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 +7 more
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A case report of acute intermittent porphyria leading to severe disability [PDF]
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder resulting from increased production of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG), due to deficiencies in the enzymatic activity of the ...
Jie Lin +3 more
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Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study [PDF]
Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh +6 more
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Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review [PDF]
Bin Zhang,1,2 Chunqing Bu,3 Yuying Zhao,4 Zhangyong Xia1,5– 7 1Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, People’s Republic of China; 2Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong, People’s ...
Zhang B, Bu C, Zhao Y, Xia Z
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The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central ...
Attout Hassene, Stephane Guez
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17-year-old female, came with complaints of abdominal pain, vomitings, hypertension. Three days before admission she developed severe abdominal pain, backache and generalised body pains with extreme weakness. These symptoms worsened over 3 days, accompanied by nausea, vomiting, and emotional instability [1]. Her medical history is notable for 6 similar
Syal, Kartik +3 more
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Acute intermittent porphyria [PDF]
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from transcriptions, they are prepared by Drs. Martin J. Cline and Hibbard E. Williams, Assistant Professors of Medicine, under the direction of Dr. Lloyd H.
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Acute intermittent porphyria exacerbation following in vitro fertilization treatment
Objectives: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.
Geok Huey New +2 more
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