Results 71 to 80 of about 8,404 (212)

Variegate porphyria : molecular aspects of variegate porphyria in South Africa and their biochemical and clinical consequences

, 2000
Bibliography: p. 215-241.Variegate porphyria (VP) is the clinical disorder associated with a deficiency of the haemsynthesising enzyme protoporphyrinogen oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa.
Hift, R J
core  

Pretransplant Evaluation of a Patient with Acute Intermittent Porphyria

, 2001
The pretransplant evaluation of a patient with a rare diagnosis requires knowledge of the pathophysiology and the transplant literature. A 55-year-old man presented with hypertensive kidney failure and the clinical diagnosis of acute intermittent ...
Karl E. Anderson, Bill J. Gurley, Sameh R. Abul-Ezz, Susan Turton-Weeks, Meredith L. Lightfoot, Gary W. Barone, Beverley L. Ketel   +6 more
core   +1 more source

Worsening abdominal pain leading to false laparotomy: a case of acute intermittent porphyria

Journal of the Pakistan Medical Association
Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to
Tehreem Farah, Hania Batool, Nasir Ashraf, Fatima Qayyum Abbasi, Aisha Nasir   +4 more
doaj   +1 more source

Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria

, 2007
The porphyrias are a group of uncommon metabolic diseases caused by enzyme deficiencies within heme biosynthesis that lead to neurotoxic or phototoxic heme precursor accumulation. There are four acute porphyrias characterized by neuropsychiatric symptoms:
Harper, P,, Wahlin, S,
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A Multifaceted Holistic Review of the Literature on Scar Dermatoses

International Wound Journal, Volume 23, Issue 5, May 2026.
ABSTRACT Many cutaneous diseases originate or manifest in scars. Scars are areas of compromised skin, which renders them a vulnerable cutaneous district for diseases to develop. The pathophysiology explaining why some dermatoses grow in scars is not yet thoroughly explored. The present study reviews the present literature on scar dermatoses.
Dana Maria Khoury, Elias El Tayar, Edward Eid, Firas F. Haddad, Ossama Abbas, Mazen Kurban   +5 more
wiley   +1 more source

Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway [PDF]

, 2018
Background: Lifestyle factors, including a low intake of carbohydrates, dieting, alcohol consumption, cigarette smoking and stress are some of the possible triggers of attacks in acute intermittent porphyria (AIP).
Storjord, Elin, Ludviksen, Judith K, Landsem, Anne, Karlsen, Marlene, Brekke, Ole-Lars, Karlsen, Bård Ove, Dahl, Jim André   +6 more
core   +1 more source

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 more
doaj   +1 more source

Reversible Neurological Manifestations Preceding Biochemical Deterioration in Postpartum HELLP Syndrome—A Case Report and Literature Review

The Journal of Clinical Hypertension, Volume 28, Issue 5, May 2026.
ABSTRACT Posterior reversible encephalopathy syndrome (PRES) is a rare but severe neurological complication associated with hypertensive disorders of pregnancy and HELLP syndrome. We report a postpartum case in which neurological manifestations preceded the full biochemical expression of HELLP syndrome. A 22‐year‐old primigravida was admitted at 36 + 0
Dario Colacurci, Stefano Raffaele Giannubilo, Laura Sarno, Caterina Fulgione, Laura Letizia Mazzarelli, Angelo Sirico, Maria Liberata Meccariello, Andrea Albanese, Dayana Quintili, Irene Lubinski, Mario Ascione, Carla Riccardi, Giorgia D'Apice, Mariarosaria Motta, Sara Iannantuoni, Chiara Murolo, Giuseppe Bifulco, Costantino Di Carlo, Andrea Ciavattini, Giuseppe Maria Maruotti   +19 more
wiley   +1 more source

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria [PDF]

, 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
Silver, S. M., J. Chen, Anderson, K. E., J. B. Kim, P. A. Peiró, Wang, J. D., Rees, D. C., P. Harper, M. T. Sweetser, Minder, E., Kauppinen, R., E. Minder, C. Parker, E. Sardh, Harper, P., D. Vassiliou, Vassiliou, D., S. Liu, A. R. Simon, Ventura, P., Liu, S., Ko, J. J., S. B. Keel, Keel, S. B., Vaishnaw, A., R. Kauppinen, Windyga, J., Gouya, L., Ivanova, A., J. Windyga, J. J. Ko, Sweetser, M. T., Sardh, E., M. Balwani, A. Vaishnaw, Balwani, M., Bonkovsky, H. L., Bissell, D. M., Horie, Y., S. M. Silver, J. -D. Wang, Phillips, J., B. Wang, Penz, C., D. C. Rees, Parker, C., J. G. Langendonk, and L. Gouya, J. Phillips, P. Garg, K. E. Anderson, A. Ivanova, Simon, A. R., U. Stölzel, Kim, J. B., Y. Horie, Stölzel, U., Wang, B., Chen, J., Langendonk, J. G., P. Ventura, Peiró, P. A., Garg, P., H. L. Bonkovsky, P. E. Stein, Stein, P. E., D. M. Bissell, C. Penz   +67 more
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