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Acute intermittent porphyria: a clinical and biochemical study of 46 patients.
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
[13.] Wikberg A, Andersson C, Lithner F Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000;248(1):27-32.
GnRH agonists in acute intermittent porphyria. Dtsch Med Wochenschr 1992; 117: 1940-1.
Acute intermittent porphyria: A diagnostic challenge.
DISCUSSION: Of all types of porphyria, acute intermittent porphyria is the most common type.
Schattenberg and De Pauw suggested that, for instance, acute intermittent porphyria is not a very rare disease.
Acute intermittent porphyria: diagnosis per chance.
PLES has also been reported in acute post-streptococcic glomerulonephritis, hemolytic uremic syndrome, use of cytotoxic and immunosuppressive drugs, blood transfusion, collagen vascular diseases and acute intermittent porphyria which occur before advance disruption in renal functions (1,2,3,4).
Taking all of these factors into account, a concomitant diagnosis of acute intermittent porphyria (AIP) was indicated.
After the clinical findings and high incidence, the patient was initially diagnosed as acute intermittent porphyria, also called Swedish porphyria.
Acute intermittent porphyria (AIP) is a hereditary hepatic porphyria inherited as autosomal dominant with low penetrance resulting from mutation in the gene encoding the enzyme, porphobilinogen deaminase (PBG-D) [hydroxymethylbilane synthase, uroporphyrinogen I synthase].
Instead, they claimed that George suffered from the inherited metabolic disease, acute intermittent porphyria, a diagnosis they later amended to the milder, though even rarer disorder, variegate porphyria.
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