Literature DB >> 3928028

Molecular genetics of acute intermittent porphyria.

A Goldberg.   

Abstract

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Year:  1985        PMID: 3928028      PMCID: PMC1416548          DOI: 10.1136/bmj.291.6494.499-a

Source DB:  PubMed          Journal:  Br Med J (Clin Res Ed)        ISSN: 0267-0623


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  7 in total

1.  Acute intermittent porphyria: a study of 50 cases.

Authors:  A GOLDBERG
Journal:  Q J Med       Date:  1959-04

2.  17-Oxosteroid conjugates in plasma and urine of patients with acute intermittent porphyria.

Authors:  J W Paxton; M R Moore; A D Deattie; A Goldberg
Journal:  Clin Sci Mol Med       Date:  1974-02

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

Authors:  U A Meyer; L J Strand; M Doss; A C Rees; H S Marver
Journal:  N Engl J Med       Date:  1972-06-15       Impact factor: 91.245

4.  Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.

Authors:  P Mustajoki
Journal:  Ann Intern Med       Date:  1981-08       Impact factor: 25.391

5.  Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.

Authors:  K E McColl; M R Moore; G G Thompson; A Goldberg
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

6.  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

7.  Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

Authors:  A L Wang; F X Arredondo-Vega; P F Giampietro; M Smith; W F Anderson; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

  7 in total

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