313 related articles for article (PubMed ID: 24613482)
1. Mouse model of glycogen storage disease type III.
Liu KM; Wu JY; Chen YT
Mol Genet Metab; 2014 Apr; 111(4):467-76. PubMed ID: 24613482
[TBL] [Abstract][Full Text] [Related]
2. [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]
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. Characterization of a canine model of glycogen storage disease type IIIa.
Yi H; Thurberg BL; Curtis S; Austin S; Fyfe J; Koeberl DD; Kishnani PS; Sun B
Dis Model Mech; 2012 Nov; 5(6):804-11. PubMed ID: 22736456
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
7. Natural Progression of Canine Glycogen Storage Disease Type IIIa.
Brooks ED; Yi H; Austin SL; Thurberg BL; Young SP; Fyfe JC; Kishnani PS; Sun B
Comp Med; 2016 Feb; 66(1):41-51. PubMed ID: 26884409
[TBL] [Abstract][Full Text] [Related]
8. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
Horvath JJ; Austin SL; Jones HN; Drake EJ; Case LE; Soher BJ; Bashir MR; Kishnani PS
Mol Genet Metab; 2012 Nov; 107(3):496-500. PubMed ID: 23062577
[TBL] [Abstract][Full Text] [Related]
9. An adult case of glycogen storage disease type IIIa.
Kim KO; Lee HJ; Choi JW; Eun JR; Choi JH
Korean J Hepatol; 2008 Jun; 14(2):219-25. PubMed ID: 18617770
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.
Vidal P; Pagliarani S; Colella P; Costa Verdera H; Jauze L; Gjorgjieva M; Puzzo F; Marmier S; Collaud F; Simon Sola M; Charles S; Lucchiari S; van Wittenberghe L; Vignaud A; Gjata B; Richard I; Laforet P; Malfatti E; Mithieux G; Rajas F; Comi GP; Ronzitti G; Mingozzi F
Mol Ther; 2018 Mar; 26(3):890-901. PubMed ID: 29396266
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Perveen S; Gupta N; Kumar M; Kaur P; Chowdhury MR; Kabra M
Am J Med Genet A; 2020 May; 182(5):1190-1200. PubMed ID: 32222031
[TBL] [Abstract][Full Text] [Related]
18. A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A; Rouillon J; Montalvo-Romeral V; Rossiaud L; Vidal P; Launay R; Vie M; Krimi Benchekroun Y; Cosette J; Bertin B; La Bella T; Dubreuil G; Nozi J; Jauze L; Fragnoud R; Daniele N; Van Wittenberghe L; Esque J; André I; Nissan X; Hoch L; Ronzitti G
J Clin Invest; 2024 Jan; 134(2):. PubMed ID: 38015640
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
