BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 22446493)

  • 1. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.
    Inal Gultekin G; Raj K; Lehman S; Hillström A; Giger U
    Mol Cell Probes; 2012 Dec; 26(6):243-7. PubMed ID: 22446493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary phosphofructokinase deficiency in wachtelhunds.
    Hillström A; Tvedten H; Rowe A; Giger U
    J Am Anim Hosp Assoc; 2011; 47(2):145-50. PubMed ID: 21311071
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels.
    Skibild E; Dahlgaard K; Rajpurohit Y; Smith BF; Giger U
    J Small Anim Pract; 2001 Jun; 42(6):298-300. PubMed ID: 11440399
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets.
    Gerber K; Harvey JW; D'Agorne S; Wood J; Giger U
    Vet Clin Pathol; 2009 Mar; 38(1):46-51. PubMed ID: 19228357
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
    Vasconcelos O; Sivakumar K; Dalakas MC; Quezado M; Nagle J; Leon-Monzon M; Dubnick M; Gajdusek DC; Goldfarb LG
    Proc Natl Acad Sci U S A; 1995 Oct; 92(22):10322-6. PubMed ID: 7479776
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.
    Malfatti E; Birouk N; Romero NB; Piraud M; Petit FM; Hogrel JY; Laforêt P
    J Neurol Sci; 2012 May; 316(1-2):173-7. PubMed ID: 22364848
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inherited phosphofructokinase deficiency in an American cocker spaniel.
    Giger U; Smith BF; Woods CB; Patterson DF; Stedman H
    J Am Vet Med Assoc; 1992 Nov; 201(10):1569-71. PubMed ID: 1289336
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs.
    Giger U; Reilly MP; Asakura T; Baldwin CJ; Harvey JW
    Anim Genet; 1986; 17(1):15-23. PubMed ID: 2940948
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.
    Vora S; Giger U; Turchen S; Harvey JW
    Proc Natl Acad Sci U S A; 1985 Dec; 82(23):8109-13. PubMed ID: 2933748
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular basis of canine muscle type phosphofructokinase deficiency.
    Smith BF; Stedman H; Rajpurohit Y; Henthorn PS; Wolfe JH; Patterson DF; Giger U
    J Biol Chem; 1996 Aug; 271(33):20070-4. PubMed ID: 8702726
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
    Sherman JB; Raben N; Nicastri C; Argov Z; Nakajima H; Adams EM; Eng CM; Cowan TM; Plotz PH
    Am J Hum Genet; 1994 Aug; 55(2):305-13. PubMed ID: 8037209
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Polysaccharide storage myopathy in canine phosphofructokinase deficiency (type VII glycogen storage disease).
    Harvey JW; Calderwood Mays MB; Gropp KE; Denaro FJ
    Vet Pathol; 1990 Jan; 27(1):1-8. PubMed ID: 2137952
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
    Musumeci O; Bruno C; Mongini T; Rodolico C; Aguennouz M; Barca E; Amati A; Cassandrini D; Serlenga L; Vita G; Toscano A
    Neuromuscul Disord; 2012 Apr; 22(4):325-30. PubMed ID: 22133655
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel.
    Davidson AG; Bell RJ; Lees GE; Kashtan CE; Davidson GS; Murphy KE
    J Vet Intern Med; 2007; 21(3):394-401. PubMed ID: 17552442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
    Vives-Corrons JL; Koralkova P; Grau JM; Mañú Pereira Mdel M; Van Wijk R
    Front Physiol; 2013; 4():393. PubMed ID: 24427140
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
    Nichols RC; Rudolphi O; Ek B; Exelbert R; Plotz PH; Raben N
    Am J Hum Genet; 1996 Jul; 59(1):59-65. PubMed ID: 8659544
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.
    Gultekin GI; Raj K; Foureman P; Lehman S; Manhart K; Abdulmalik O; Giger U
    J Vet Intern Med; 2012; 26(4):935-44. PubMed ID: 22805166
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hereditary factor VII deficiency in the Alaskan Klee Kai dog.
    Kaae JA; Callan MB; Brooks MB
    J Vet Intern Med; 2007; 21(5):976-81. PubMed ID: 17939552
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
    Raben N; Exelbert R; Spiegel R; Sherman JB; Nakajima H; Plotz P; Heinisch J
    Am J Hum Genet; 1995 Jan; 56(1):131-41. PubMed ID: 7825568
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in muscle phosphofructokinase gene.
    Raben N; Sherman JB
    Hum Mutat; 1995; 6(1):1-6. PubMed ID: 7550225
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.