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 *

135 related articles for article (PubMed ID: 11596370)

  • 1. [Glycogen debranching enzyme deficiency (Forbes-Cori disease)].
    Tsujino S
    Ryoikibetsu Shokogun Shirizu; 2001; (36):20-2. PubMed ID: 11596370
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. [Glycogen debranching enzyme deficiency].
    Owada M; Nakabayashi H
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):38-42. PubMed ID: 9589983
    [No Abstract]   [Full Text] [Related]  

  • 4. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
    Okubo M; Kanda F; Horinishi A; Takahashi K; Okuda S; Chihara K; Murase T
    Hum Mutat; 1999 Dec; 14(6):542-3. PubMed ID: 10571954
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [Glycogen branching enzyme deficiency (Andersen disease)].
    Tsujino S
    Ryoikibetsu Shokogun Shirizu; 2001; (36):23-4. PubMed ID: 11596376
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
    Lucchiari S; Santoro D; Pagliarani S; Comi GP
    Acta Myol; 2007 Jul; 26(1):72-4. PubMed ID: 17915576
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
    Chayoth R; Moses SW; Steinitz K
    Isr J Med Sci; 1967; 3(3):422-6. PubMed ID: 5317552
    [No Abstract]   [Full Text] [Related]  

  • 12. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
    Lucchiari S; Pagliarani S; Salani S; Filocamo M; Di Rocco M; Melis D; Rodolico C; Musumeci O; Toscano A; Bresolin N; Comi GP
    Hum Mutat; 2006 Jun; 27(6):600-1. PubMed ID: 16705713
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
    Cherif W; Ben Rhouma F; Messai H; Mili A; Gribaa M; Kefi R; Ayadi A; Boughamoura L; Chemli J; Saad A; Kaabachi N; Sfar MT; Ben Dridi MF; Tebib N; Abdelhak S
    Ann Biol Clin (Paris); 2012; 70(6):648-50. PubMed ID: 23207808
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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 Aug; 225(2):695. PubMed ID: 8815868
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
    Aoyama Y; Endo Y; Ebara T; Murase T; Shin YS; Podskarbi T; Ozer I; Demirkol M; Gökçay G; Okubo M
    Pediatr Int; 2010 Feb; 52(1):145-7. PubMed ID: 20158661
    [No Abstract]   [Full Text] [Related]  

  • 16. Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
    Uotani S; Yamasaki H; Takino H; Kawasaki E; Matsuo H; Yamasaki S; Jinno Y; Niikawa N; Ito M; Sugie H; Yamaguchi Y; Eguchi K
    J Inherit Metab Dis; 2000 Jul; 23(5):527-8. PubMed ID: 10947213
    [No Abstract]   [Full Text] [Related]  

  • 17. Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
    Parvari R; Shen J; Hershkovitz E; Chen YT; Moses SW
    J Inherit Metab Dis; 1998 Apr; 21(2):141-8. PubMed ID: 9584265
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
    Goldstein JL; Austin SL; Boyette K; Kanaly A; Veerapandiyan A; Rehder C; Kishnani PS; Bali DS
    Genet Med; 2010 Jul; 12(7):424-30. PubMed ID: 20648714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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.
    Chen YT
    Hum Genet; 1999 Jan; 104(1):111-2. PubMed ID: 10071203
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.