These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

108 related articles for article (PubMed ID: 3928028)

  • 21. [Genetic studies of families of patients with porphyria. Determination of uroporphyrinogen I synthase in the erythrocytes].
    Gregor A; Kostrzewska E; Kocyłowski M; Rudowski W
    Pol Arch Med Wewn; 1979 Jul; 62(1):15-21. PubMed ID: 503882
    [No Abstract]   [Full Text] [Related]  

  • 22. Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.
    Bonaïti-Pellié C; Phung L; Nordmann Y
    Am J Med Genet; 1984 Dec; 19(4):755-62. PubMed ID: 6517099
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.
    Vázquez-Prado J; Sánchez-Anzaldo FJ; Ruiz-Argüelles GJ; Marín-López E; Lobato-Mendizábal E
    J Inherit Metab Dis; 1995; 18(1):66-71. PubMed ID: 7623445
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Normal activity of uroporphyrinogen I synthase during an attack of acute intermittent porphyria].
    Kostrzewska E; Gregor A
    Pol Tyg Lek; 1980 Nov; 35(46):1785-6. PubMed ID: 7243643
    [No Abstract]   [Full Text] [Related]  

  • 25. Acute intermittent porphyria.
    Anderson KE; Sassa S; Kappas A
    Ann Intern Med; 1981 Dec; 95(6):784-5. PubMed ID: 7305168
    [No Abstract]   [Full Text] [Related]  

  • 26. Acute intermittent porphyria: laboratory diagnosis by molecular methods.
    Schreiber WE
    Clin Lab Med; 1995 Dec; 15(4):943-56. PubMed ID: 8838232
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Evaluation of the diagnostic usefulness of determining porphobilinogen deaminase activity in the erythrocytes in patients with acute intermittent porphyria and in carriers of the gene of this type of porphyria].
    Gregor A; Kocyłowski M; Kostrzewska E
    Przegl Lek; 1986; 43(11):703-5. PubMed ID: 3575772
    [No Abstract]   [Full Text] [Related]  

  • 28. Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
    Delfau MH; Picat C; De Rooij F; Voortman G; Deybach JC; Nordmann Y; Grandchamp B
    Am J Hum Genet; 1991 Aug; 49(2):421-8. PubMed ID: 1714233
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Dual porphyria with mutations in both the UROD and HMBS genes.
    Harraway JR; Florkowski CM; Sies C; George PM
    Ann Clin Biochem; 2006 Jan; 43(Pt 1):80-2. PubMed ID: 16390615
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Acute intermittent porphyria: uroporphyrinogen-I-synthetase activity in erythrocytes as a diagnostic index].
    Formgren B; Wetterberg L
    Lakartidningen; 1978 May; 75(19):1921-4. PubMed ID: 651454
    [No Abstract]   [Full Text] [Related]  

  • 31. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD
    Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Detection of intermittent acute porphyria trait in children.
    Nordmann Y; Grandchamp B; Grelier M; Phung N; de Verneuil H
    Lancet; 1976 Jul; 2(7978):201-2. PubMed ID: 73824
    [No Abstract]   [Full Text] [Related]  

  • 33. Acute intermittent porphyria and uroporphyrinogen I synthase. Biochemical study of a family.
    Indaco A; Carrieri P; Orefice G; Sanna G; Buscaino GA
    Acta Neurol (Napoli); 1981 Jun; 3(3):491-5. PubMed ID: 7282468
    [No Abstract]   [Full Text] [Related]  

  • 34. Lack of linkage between acute intermittent porphyria and the A and B loci of the HLA system.
    Tongio MM; Mayer S; Hauptmann G; North ML; Koehl C; Abecassis J; Mandel P; Wertenschlag J
    Tissue Antigens; 1979 Apr; 13(4):273-7. PubMed ID: 88775
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Pathophysiology and diagnosis of acute intermittent porphyria].
    Wichmann T; Freye HA
    Z Gesamte Inn Med; 1977 Jun; 32(12):289-92. PubMed ID: 910533
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Di Pierro E; Besana V; Brancaleoni V; Fasulo MR; Cesaretti C; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):347. PubMed ID: 19320027
    [No Abstract]   [Full Text] [Related]  

  • 37. [Letter: Determination of uroporphyrinogen I synthetase in intermittent acute porphyria. 7 cases].
    Koehl C; Abecassis J; Wertenschlag J
    Nouv Presse Med; 1975 Nov; 4(38):2735. PubMed ID: 1202467
    [No Abstract]   [Full Text] [Related]  

  • 38. Prenatal diagnosis of acute intermittent porphyria.
    Sassa S; Kappas A
    N Engl J Med; 1976 Dec; 295(24):1381. PubMed ID: 980088
    [No Abstract]   [Full Text] [Related]  

  • 39. Drug sensitivity in hereditary hepatic porphyria.
    Meyer UA
    Hum Genet Suppl; 1978; (1):71-8. PubMed ID: 285036
    [No Abstract]   [Full Text] [Related]  

  • 40. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
    Delfau MH; Picat C; de Rooij FW; Hamer K; Bogard M; Wilson JH; Deybach JC; Nordmann Y; Grandchamp B
    J Clin Invest; 1990 Nov; 86(5):1511-6. PubMed ID: 2243128
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.