Acute Intermittent Porphyria: Laboratory Diagnosis by Molecular Methods
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry
Reference57 articles.
1. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria;Anderson;J Clin Invest,1981
2. The diagnosis of acute intermittent porphyria: usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay;Bottomley;Am J Clin Pathol,1981
3. Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity;Bourgeois;Clin Chem,1992
4. Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene;Chen;J Clin Invest,1994
5. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression;Chretien;Proc Natl Acad Sci,1988
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1. Neurologic Disorders Associated with Gastrointestinal Diseases and Nutritional Deficiencies;Swaiman's Pediatric Neurology;2012
2. Porphyria presenting with bilateral radial motor neuropathy: Evidence of a novel gene mutation;Neurology;2002-04-09
3. Diagnostic Dilemmas in Acute Intermittent Porphyria;Medical Principles and Practice;2002
4. Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria;Clinical Biochemistry;2000-08
5. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria;Journal of Human Genetics;2000-07
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