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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 ...
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
(John Wiley & Sons Inc, 2019-06)
Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of ...
Porphyria and pregnancy. Review of 17 women Porfiria y embarazo
(2008)
Background: Hormonal changes, prolonged fasting due to vomiting and some medications used during pregnancy, may cause an acute crisis of porphyria, sometimes unveiling a latent disease. Porphyria may also affect the evolution ...
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 ...
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients
(Springer, 2012-04)
A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically ...
Porfiria y embarazo
(Sociedad Médica de Santiago, 2008)
The hepatic porphyrias: experience with 105 cases
(1992)
Hepatic porphyria is a rare metabolic syndrome caused by abnormal enzyme activity in heme biosynthesis. Between 1974 and 1991; 105 patients have met criteria for diagnosis of hepatic porphyria based on typical clinical ...
Porfiria y embarazo
(SOC MEDICA SANTIAGO, 2008-02)
Hormonal changes, prolonged fasting due to
vomiting and some medications used during pregnancy, may cause an acute crisis of
porphyria, sometimes unveiling a latent disease. Porphyria may also affect the evolution ...
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America
(BLACKWELL, 2006-02)
A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the ...