Results 21 to 30 of about 1,644 (213)
Journal of Clinical and Translational Hepatology, 2015 The porphyrias comprise a set of diseases, each representing an individual defect in one of the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically distinct but have in common the overproduction of heme precursors. In the case of the acute (neurologic) porphyrias, the cause of symptoms appears to be overproduction of a ...
Bissell, D Montgomery, Wang, Bruce
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Molecular Genetics and Metabolism Reports, 2022 Elagolix is an FDA-approved treatment for moderate-to-severe pain associated with endometriosis but has been associated with increased acute porphyric attacks in women with the acute hepatic porphyrias (AHPs).
Christopher D. Ma, Herbert L. Bonkovsky
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Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C [PDF]
Anais Brasileiros de Dermatologia, 2019 : A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported.
Juliana de Oliveira Alves Calado +2 more
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Acute intermittent porphyria in a 23-year-old man: case report
Revista Médica de Minas Gerais, 2023 Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema +4 more
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Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]
, 2001 Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Panzer, M. +9 more
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Pain in acute hepatic porphyrias: Updates on pathophysiology and management
Frontiers in Neurology, 2022 Acute hepatic porphyrias (AHPs) typically present with recurrent acute attacks of severe abdominal pain and acute autonomic dysfunction. While chronic symptoms were historically overlooked in the literature, recent studies have reported increased ...
Mohamed Kazamel +2 more
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Regulation of hepatic heme synthesis by drugs, bile acids and nutrition : a transcriptional network regulating [delta]-aminolevulinic acid synthase 1 (ALAS1) [PDF]
, 2008 ALAS1 is the rate limiting enzyme of heme synthesis. It is highly inducible in liver in cases of increased heme demand, such as drug metabolism or in inducible hepatic porphyrias.
Peyer, Anne-Kathrin
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Acute hepatic porphyria - classification, diagnosis and treatment
Journal of Education, Health and Sport, 2022 Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between:
Aleksandra Czekaj +4 more
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Acute hepatic porphyrias: Recommendations for evaluation and long‐term management [PDF]
, 2017 The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway.
Wang, Bruce +17 more
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Frontiers in Pharmacology, 2022 Eslicarbazepine acetate, a third-generation antiepileptic drug (AED), has shown improved clinical response and safety in comparison to older generation AEDs for patients with partial-onset seizures.
Christopher D. Ma, Herbert L. Bonkovsky
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