Results 31 to 40 of about 8,404 (212)
False-Positive Accumulation of Metaiodobenzylguanidine in a Case with Acute Intermittent Porphyria [PDF]
, 2011 We report a 36-year-old woman presenting with hypertensive encephalopathy followed by bulbar palsy and quadriplegia. After an extensive screening for secondary causes of hypertension, the patient was suspected of having pheochromocytoma due to increased ...
Rie Ota +15 more
core +1 more source
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
doaj +1 more source
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
doaj +1 more source
Journal of Education, Health and SportIntroduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba +3 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
, 2012 In this paper we report the application of an extensive database of symptoms, signs, laboratory findings and illnesses, to the diagnosis of an historical figure.
Garrard, P, Peters, TJ
core +1 more source
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
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
doaj +1 more source