Results 11 to 20 of about 2,384 (181)
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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Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report [PDF]
Korean Journal of Anesthesiology, 2014 Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants.
Eun Young Park +6 more
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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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Biomolecules, 2023 Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda +5 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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Diagnostics, 2022 Heme, iron protoporphyrin IX, is one of life’s most central molecules. Hence, availability of the enzymatic machinery necessary for its synthesis is crucial for every cell.
Petro E. Petrides
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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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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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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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Development and validation of a method for porphyrins quantification using HPLC-UV in urine
Фармакокинетика и Фармакодинамика, 2022 Porphyrias are the group of orphan diseases, related to pathological disruptions of heme biosynthesis. These diseases are hard to diagnose timely and existing methods lack universality.
D. A. Kildyushkin +2 more
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