Results 11 to 20 of about 2,338 (181)
South African Journal of Physiotherapy, 1968 No abstract available.
Geoffrey Dean
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JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022 SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke +3 more
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Porphyria or not porphyria – that is the question… [PDF]
BMJ Case Reports, 2010 A 55-year-old man presented with a 2-month history of blisters affecting his hands. His history was significant for treated multiple myeloma with residual monoclonal gammopathy of undetermined significance, and end stage renal disease on automated peritoneal dialysis.
Smyth, A. +3 more
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Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P +5 more
europepmc +2 more sources
Psychological Aspect and Quality of Life in Porphyrias: A Review
Diagnostics, 2022 The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca +4 more
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The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
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The influence of excessive alcohol consumption on the course and development of dermatoses
Лечащий Врач, 2022 The spectrum of dermatoses associated with alcohol dependence syndrome is quite extensive. Ethanol and other components of alcoholic beverages affect the structure of the skin and blood vessels, impair immune function, increase the risk of exacerbation ...
A. F. Gatina, N. P. Teplyuk
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High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria
JIMD Reports, 2022 Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns +4 more
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Revista Brasileira de Reumatologia, 2012 A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade.
Scheila Fritsch +5 more
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Porphyrias in the Age of Targeted Therapies
Diagnostics, 2021 The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well
Angelika L. Erwin, Manisha Balwani
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