Results 11 to 20 of about 17,878 (259)
An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +6 more sources
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022 The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis.
Wiebke Muschalek +3 more
semanticscholar +4 more sources
Acute Hepatic Porphyrias: Review and Recent Progress [PDF]
Hepatology Communications, 2018 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Bruce Wang +3 more
semanticscholar +3 more sources
South African Journal of Physiotherapy, 1968 No abstract available.
Geoffrey Dean
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Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs)
Molecular Genetics and Metabolism, 2019 The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP].
H. Bonkovsky, N. Dixon, S. Rudnick
exaly +2 more sources
Molecular Genetics and Metabolism, 2019 Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity.
Katell Peoc'h +2 more
exaly +2 more sources
Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias
eLife, 2016 Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus +8 more
doaj +2 more sources
Acute intermittent porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana +3 more
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AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review
Gastroenterology, 2023 DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid ...
Bruce Wang +3 more
semanticscholar +1 more source
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Médica Portuguesa, 2023 Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô +10 more
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