Results 91 to 100 of about 13,719 (226)
, 2011 This dissertation focuses on protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the haem biosynthetic pathway. Partial defects in PPOX result in variegate porphyria, an autosomal dominant disorder.
Boateng, Mavis O
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Porphyria and pregnancy. Review of 17 women Porfiria y embarazo [PDF]
, 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 of pregnancy.
Wolff Fernández, Carlos +1 more
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, 2013 Porphyrias are a group of inherited or acquired enzymatic defects of heme biosynthesis. Porphyria is a rare yet potentially life threatening disorder which may be induced by multiple factors including particular medications. There is a need for rapid and
Cherie Bate
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Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria
Molecular Genetics and Metabolism ReportsHomozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring, and poorly ...
Chenqing Wang +10 more
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Managing malignant disease in patients with porphyria
, 2004 Certain types of porphyria have an increased incidence of malignant disease. In addition, patients with all forms of porphyria may develop malignant disease as a 'normal life event'.
Palmieri, C, Peters, T J, Vigushin, D M
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Pretransplant Evaluation of a Patient with Acute Intermittent Porphyria
, 2001 The pretransplant evaluation of a patient with a rare diagnosis requires knowledge of the pathophysiology and the transplant literature. A 55-year-old man presented with hypertensive kidney failure and the clinical diagnosis of acute intermittent ...
Karl E. Anderson +6 more
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