Results 31 to 40 of about 1,465,884 (208)
Expression, purification and characterisation of protoporphyrinogen oxidases from diverse species [PDF]
, 2000 Bibliography: leaves 163-203.This work involved the characterisation of protoporphyrinogen oxidase (PPO), the penultimate enzyme in haem biosynthesis, from Bacillus subtilis, Myxococcus xanthus, and human. A defect in human PPO causes variegate porphyria,
Siziba, Kwanele Bennett
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SUBACUTE CUTANEOUS LUPUS ERYTHEMATOSUS WITH PSEUDO-PORPHYRIA AND VITILIGO
Journal of Nepal Medical Association, 2003 Sub acute Cutaneous Lupus Erythematosus (SCLE) is a distinct subset of Lupus Erythematosus. It can present as non scarring psoriasiform or annular polycyclic lesions.
H Sripathi, M Dahal, A Basu
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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
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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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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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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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