Literature DB >> 5024458

Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.

U A Meyer, L J Strand, M Doss, A C Rees, H S Marver.   

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Year:  1972        PMID： 5024458     DOI： 10.1056/NEJM197206152862401

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  47 in total

1.  Editorial: Differential diagnosis of the hepatic porphyrias.

Authors: 
Journal:  Br Med J       Date:  1975-12-27

2.  RFLP analysis of three different types of acute intermittent porphyria.

Authors:  R Kauppinen; L Peltonen; A Palotie; P Mustajoki
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

3.  Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.

Authors:  J To-Figueras; C Badenas; C Carrera; C Muñoz; M Milá; M Lecha; C Herrero
Journal:  J Inherit Metab Dis       Date:  2006-08       Impact factor: 4.982

4.  Catecholamine uptake, accumulation, and release in acute porphyria.

Authors:  M F Beal; N O Atuk; T C Westfall; S M Turner
Journal:  J Clin Invest       Date:  1977-11       Impact factor: 14.808

5.  Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Authors:  C H Chen; K H Astrin; G Lee; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1994-11       Impact factor: 14.808

6.  Rat hepatic uroporphyrinogen III co-synthase. Purification and evidence for a bound folate coenzyme participating in the biosynthesis of uroporphyrinogen III.

Authors:  M Kohashi; R P Clement; J Tse; W N Piper
Journal:  Biochem J       Date:  1984-06-15       Impact factor: 3.857

Review 7.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

8.  Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.

Authors:  P M Anderson; R M Reddy; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1981-07       Impact factor: 14.808

9.  Studies in porphyria. VII. Induction of uroporphyrinogen-I synthase and expression of the gene defect of acute intermittent porphyria in mitogen-stimulated human lymphocytes.

Authors:  S Sassa; G L Zalar; A Kappas
Journal:  J Clin Invest       Date:  1978-02       Impact factor: 14.808

10.  Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.

Authors:  L J Strand; U A Meyer; B F Felsher; A G Redeker; H S Marver
Journal:  J Clin Invest       Date:  1972-10       Impact factor: 14.808
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