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porphyrias/únava organizmu

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11 výsledky

Diagnostic traps in porphyria: case report and literature review.

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Porphyrias are metabolic disorders of heme biosynthesis, which encompass a broad range of symptoms and signs, neurologic, cutaneous or mixed. Because of lack of specificity and polymorphous clinical picture, porphyrias can mimic either neuropsychiatric, dermatologic, or gastrointestinal diseases. We

Fatigue syndromes: new thoughts and reinterpretation of previous data.

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Recently, the author has identified 19 patients who have complained of marked fatigue that had abnormal responses to copper test bracelets or necklaces. At this time, 8 have been shown to have at least one enzyme deficiency in the heme pathway. These patients have been diagnosed with multiple

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.

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Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important

Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.

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In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

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Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Months later, his grandmother was

Porphyria cutanea tarda: a case report.

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The porphyrias are a rare group of metabolic disorders that can either be inherited or acquired. Along the heme biosynthetic pathway, porphyrias can manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Porphyria cutanea tarda, the most common type

Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study.

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The objective of this study was to update the clinical issues of acute intermittent porphyria (AIP), as they have not been in focus for years, and to be aware of potentially associated disorders and social consequences. A total of 356 gene carriers of AIP from northern Sweden participated in this

Porphyria: a new perspective.

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Recently, Medical Hypotheses has published two papers on fatigue syndromes and their relationship to porphyrin metabolism (1,2). This article continues the exploration of how many diseases may have abnormal porphyrin metabolism playing a role in their pathogenesis. Another issue is the need to

Lead poisoning due to hai ge fen. The porphyrin content of individual erythrocytes.

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A 45-year-old Korean man developed abdominal colic, muscle pain, and fatigue. Following a 3-week hospitalization, acute intermittent porphyria was diagnosed based on the symptoms and a high level of urinary delta-aminolevulinic acid (378 mumol/L [4.95 mg/dL]). However, discovery of an elevated blood

Sun, iron, alcohol and intrinsic liver disease: a recipe for failure.

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A 62-year-old Caucasian woman, with remote history of painful skin blistering and hypertrichosis, recent history of travel to Mexico and increased alcohol consumption, presented with progressively worsening jaundice and fatigue. Physical examination was remarkable for severe generalised jaundice,

5-aminolevulinic acid-induced alterations of oxidative metabolism in sedentary and exercise-trained rats.

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5-Aminolevulinic acid (ALA), a heme precursor that accumulates in acute intermittent porphyria patients and lead-exposed individuals, has previously been shown to autoxidize with generation of reactive oxygen species and to cause in vitro oxidative damage to rat liver mitochondria. We now
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