Results 21 to 30 of about 7,124 (172)
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Anais da Academia Brasileira de Ciências, 2013 Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS +4 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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Clinical Case Reports, 2020 In cases of recurrent attacks of acute porphyria during pregnancy, prophylactic administration of heme arginate should be considered. Clinical and biochemical monitoring of the disease and a close collaboration with a porphyria center are crucial.
Daphne Vassiliou +3 more
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European Journal of Case Reports in Internal Medicine, 2022 The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central ...
Attout Hassene, Stephane Guez
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A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue [PDF]
Acta Medica Iranica, 1959 A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj
Desensitization in patients with hypersensitivity to haem arginate: A case report
World Allergy Organization Journal, 2019 Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman +3 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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Many pitfalls in diagnosis of acute intermittent porphyria: a case report
BMC Research Notes, 2018 Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika +13 more
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The Journal of Dermatology, EarlyView.ABSTRACT Physical urticaria is a subtype of chronic inducible urticaria characterized by wheals and/or angioedema triggered by physical stimuli. We report a refractory case of combined localized heat urticaria, delayed solar urticaria, and symptomatic dermographism in a 16‐year‐old girl.
Shuta Yoshitani +2 more
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British Journal of Haematology, EarlyView.Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi +3 more
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