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Mostrando ítems 11-20 de 113
Haplotype Study in Argentinean Variegate Porphyria Patients
(Karger, 2016-07)
Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands ...
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
(Hindawi Publishing Corporation, 2020-10)
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the hemebiosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria ...
Clinical Challenges of Acute Porphyria in the Young Adult
(2022-01-01)
Porphyria is a metabolic disorder caused by a mutation in the heme biosynthetic pathway, with vague symptomatology and rare prevalence. A triad of hyponatremia, intermittent seizures, and abdominal pain should raise suspicion ...
The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene
(BLACKWELL MUNKSGAARD, 2004-06)
The porphyrias are heterogeneous disorders arising from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. Porphyria cutanea tarda (PCT) results from a decreased activity of uroporphyrinogen ...
Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile Porfiria variegata en Chile: Identificación de mutaciones en el gen protoporfirinógeno oxidasa y su implicancia diagnóstica
(2006)
Variegate porphyria (VP) results from a hereditary deficiency of protoporphyrinogen oxidase (PPOX) that is transmitted in an autosomal dominan fashion. The diagnosis is based on the clinical symptoms and is confirmed ...
Hepatic alteration of tryptophan metabolism in an acute porphyria model. Its relation with gluconeogenic blockage
(Pergamon-Elsevier Science Ltd, 2008-02)
This study focuses on the alterations suffered by the serotoninergic and kinurenergic routes of tryptophan (TRP) metabolism in liver, and their relation with gluconeogenic phosphoenolpyruvate-carboxykinase (PEPCK) blockage ...
Porfiria: Presentación de un caso y revisión de la literatura
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2007-03-01)
Porfirias agudas.
(Asociación Médica del Centro Médico ABC (American British Cowdray), 2004)
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway
(Soc Experimental Biology Medicine, 2013-02)
A classical acute porphyria model in rats consists of combined treatment with 2-allyl-2-isopropylacetamide (AIA) and 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC). The present work describes the effects of this treatment ...