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 *

300 related articles for article (PubMed ID: 29317194)

  • 21. Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.
    Yin Z; Wahlin S; Ellis EC; Harper P; Ericzon BG; Nowak G
    Cell Transplant; 2014; 23(9):1153-62. PubMed ID: 23582197
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
    Schneider-Yin X; Bogard C; Rüfenacht UB; Puy H; Nordmann Y; Minder EI; Deybach J
    Hum Hered; 2000; 50(4):247-50. PubMed ID: 10782018
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
    Yu S; Poulos V; Stewart P
    J Hum Genet; 2000; 45(6):367-9. PubMed ID: 11185747
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.
    To-Figueras J; Badenas C; Carrera C; Muñoz C; Milá M; Lecha M; Herrero C
    J Inherit Metab Dis; 2006 Aug; 29(4):580-5. PubMed ID: 16817012
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
    Surin VL; Luchinina IuA; Selivanova DS; Pustovoĭt IaS; Karpova IS; Pivnik AV; Luk'ianenko AV; Kravchenko SK
    Genetika; 2010 Apr; 46(4):540-52. PubMed ID: 20536026
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Structural insight into acute intermittent porphyria.
    Song G; Li Y; Cheng C; Zhao Y; Gao A; Zhang R; Joachimiak A; Shaw N; Liu ZJ
    FASEB J; 2009 Feb; 23(2):396-404. PubMed ID: 18936296
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
    Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.
    Johansson A; Möller C; Fogh J; Harper P
    Mol Med; 2003; 9(9-12):193-9. PubMed ID: 15208740
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
    Morán-Jiménez MJ; Borrero-Corte MJ; Jara-Rubio F; García-Pastor I; Díaz-Díaz S; Castelbón-Fernandez FJ; Enríquez-de-Salamanca R; Méndez M
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32806544
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.
    Johansson A; Nowak G; Möller C; Harper P
    Mol Genet Metab; 2004 May; 82(1):20-6. PubMed ID: 15110317
    [TBL] [Abstract][Full Text] [Related]  

  • 31. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
    Hrdinka M; Puy H; Martasek P
    Physiol Res; 2006; 55 Suppl 2():S119-136. PubMed ID: 17298216
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
    Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
    Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria.
    Johansson A; Nowak G; Möller C; Blomberg P; Harper P
    Mol Ther; 2004 Aug; 10(2):337-43. PubMed ID: 15294180
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
    Schneider-Yin X; Hergersberg M; Schuurmans MM; Gregor A; Minder EI
    J Inherit Metab Dis; 2004; 27(5):625-31. PubMed ID: 15669678
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.
    Sardh E; Rejkjaer L; Andersson DE; Harper P
    Clin Pharmacokinet; 2007; 46(4):335-49. PubMed ID: 17375984
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
    Puy H; Deybach JC; Lamoril J; Robreau AM; Da Silva V; Gouya L; Grandchamp B; Nordmann Y
    Am J Hum Genet; 1997 Jun; 60(6):1373-83. PubMed ID: 9199558
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
    Robreau-Fraolini AM; Puy H; Aquaron C; Bogard C; Traore M; Nordmann Y; Aquaron R; Deybach JC
    Hum Genet; 2000 Aug; 107(2):150-9. PubMed ID: 11030413
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
    De Siervi A; Weiss Cádiz DE; Parera VE; del C Batlle AM; Rossetti MV
    Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
    Johansson A; Möller C; Harper P
    Mol Cell Biochem; 2003 Aug; 250(1-2):65-71. PubMed ID: 12962144
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].
    Cao XP; Su L; Xiao HP; Liu YY; Li YB; Xiu LL
    Zhonghua Yi Xue Za Zhi; 2008 Sep; 88(34):2414-6. PubMed ID: 19087719
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.