Browsing by Author "201-0300878"
Now showing items 1-7 of 7
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(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 ...
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(WILEY-LISS, DIV JOHN WILEY & SONS INC, 2006-02)Objective. To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). Methods. Two hundred forty-nine Chilean patients with ...
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(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 ...
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(MEDICINA (BUENOS AIRES), 2006)Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients. In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis ...
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(INST NACIONAL NUTRICION, 2006-08)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 ...
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(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 ...
