Results 11 to 20 of about 789 (146)
PB2559: VARIEGATE PORPHYRIA CONFIRMED BY NGS AND TREATED WITH GIVOSIRAN - CASE PRESENTATION [PDF]
HemaSphere, 2023 HemaSphere, Volume 7, Issue S3, August 2023.
Georgeta Daniela Georgescu
doaj +3 more sources
Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals [PDF]
Toxicology Reports, 2015 Butafenacil is an herbicide that inhibits protoporphyrinogen oxidase (PPOX), an enzyme that catalyzes oxidation of protoporphyrinogen IX to protoporphyrin IX during chlorophyll and heme biosynthesis.
Jessica K. Leet +2 more
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A case report on variegate porphyria after etonogestrel placement [PDF]
JAAD Case Reports, 2022 Arianna Strome, BS +3 more
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Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone [PDF]
Acta Dermato-Venereologica, 2021 Christiane S. Cussigh +4 more
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montalcino, A zebrafish model for variegate porphyria. [PDF]
Exp Hematol, 2008 OBJECTIVE Inherited or acquired mutations in the heme biosynthetic pathway leads to a debilitating class of diseases collectively known as porphyrias, with symptoms that can include anemia, cutaneous photosensitivity, and neurovisceral dysfunction. In a genetic screen for hematopoietic mutants, we isolated a zebrafish mutant, montalcino (mno), which ...
Dooley KA +13 more
europepmc +5 more sources
Acute hepatic porphyria in Denmark; a retrospective study [PDF]
Orphanet Journal of Rare DiseasesBackground Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria ...
Magnus Emil Ulrich Wagner +2 more
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Variegate porphyria complicated by systemic AA amyloidosis: a case report [PDF]
Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 2013 Takeshi Fujii +2 more
exaly +2 more sources
Acute porphyrias – A neurological perspective
Brain and Behavior, 2021 Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer +5 more
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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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