BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

437 related articles for article (PubMed ID: 15833157)

  • 1. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
    Zhuang TF; Qiu ZQ; Wei M; Huang SZ
    Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):85-8. PubMed ID: 15833157
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S; Fogh I; Prelle A; Parini R; Bresolin N; Melis D; Fiori L; Scarlato G; Comi GP
    Am J Med Genet; 2002 May; 109(3):183-90. PubMed ID: 11977176
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
    Shen J; Bao Y; Liu HM; Lee P; Leonard JV; Chen YT
    J Clin Invest; 1996 Jul; 98(2):352-7. PubMed ID: 8755644
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
    Basit S; Malibari O; Al Balwi AM; Abdusamad F; Abu Ismail F
    Ann Saudi Med; 2014; 34(5):390-5. PubMed ID: 25827695
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
    Okubo M; Horinishi A; Nakamura N; Aoyama Y; Hashimoto M; Endo Y; Murase T
    Hum Genet; 1998 Jan; 102(1):1-5. PubMed ID: 9490286
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
    Okubo M; Horinishi A; Suzuki Y; Murase T; Hayasaka K
    Am J Med Genet; 2000 Jul; 93(3):211-4. PubMed ID: 10925384
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
    Mili A; Ben Charfeddine I; Amara A; Mamaï O; Adala L; Ben Lazreg T; Bouguila J; Saad A; Limem K; Gribaa M
    Clin Genet; 2012 Dec; 82(6):534-9. PubMed ID: 22035446
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
    Wang X; Qiu WJ; Ye J; Han LS; Zhang HW; Jiang LR; Zhang YF; Gu XF
    Zhonghua Er Ke Za Zhi; 2009 Jun; 47(6):416-20. PubMed ID: 19951465
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
    Okubo M; Ucar SK; Podskarbi T; Murase T; Shin YS; Coker M
    Clin Chim Acta; 2015 Jan; 439():162-7. PubMed ID: 25451950
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
    Horinishi A; Okubo M; Tang NL; Hui J; To KF; Mabuchi T; Okada T; Mabuchi H; Murase T
    J Hum Genet; 2002; 47(2):55-9. PubMed ID: 11924557
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
    Wang W; We M; Song HM; Qiu ZQ; Zhang WM; Wu XY; Lu CX; Qi JM; Jing H; Li F
    Zhonghua Er Ke Za Zhi; 2009 Aug; 47(8):608-12. PubMed ID: 19951495
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
    Lucchiari S; Donati MA; Melis D; Filocamo M; Parini R; Bresolin N; Comi GP
    Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955720
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
    Shen J; Bao Y; Chen YT
    Hum Mutat; 1997; 9(1):37-40. PubMed ID: 8990006
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].
    Qiu ZQ; Wei M; Liu G; Liu GY
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):252-5. PubMed ID: 14754525
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
    Aoyama Y; Ozer I; Demirkol M; Ebara T; Murase T; Podskarbi T; Shin YS; Gokcay G; Okubo M
    J Hum Genet; 2009 Nov; 54(11):681-6. PubMed ID: 19834502
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glycogen storage disease type III in the Irish population.
    Crushell E; Treacy EP; Dawe J; Durkie M; Beauchamp NJ
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S215-8. PubMed ID: 20490926
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.
    Oh SH; Park HD; Ki CS; Choe YH; Lee SY
    Clin Chem Lab Med; 2008; 46(9):1245-9. PubMed ID: 18785866
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
    Okubo M; Aoyama Y; Murase T
    Biochem Biophys Res Commun; 1996 Jul; 224(2):493-9. PubMed ID: 8702417
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
    Lucchiari S; Donati MA; Parini R; Melis D; Gatti R; Bresolin N; Scarlato G; Comi GP
    Hum Mutat; 2002 Dec; 20(6):480. PubMed ID: 12442284
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 22.