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179 related items for PubMed ID: 9584265
1. 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 [Abstract] [Full Text] [Related]
2. 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 15; 98(2):352-7. PubMed ID: 8755644 [Abstract] [Full Text] [Related]
3. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T. Hum Genet; 2000 Jan 15; 106(1):108-15. PubMed ID: 10982190 [Abstract] [Full Text] [Related]
4. 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 Jan 15; 9(1):37-40. PubMed ID: 8990006 [Abstract] [Full Text] [Related]
5. [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 15; 43(2):85-8. PubMed ID: 15833157 [Abstract] [Full Text] [Related]
6. 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 15; 102(1):1-5. PubMed ID: 9490286 [Abstract] [Full Text] [Related]
7. Molecular characterization of glycogen storage disease type III. Shen JJ, Chen YT. Curr Mol Med; 2002 Mar 15; 2(2):167-75. PubMed ID: 11949933 [Abstract] [Full Text] [Related]
8. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. Eur J Hum Genet; 1997 Mar 15; 5(5):266-70. PubMed ID: 9412782 [Abstract] [Full Text] [Related]
9. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT. Mol Genet Metab; 2000 Jan 15; 69(1):16-23. PubMed ID: 10655153 [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 15; 14(6):542-3. PubMed ID: 10571954 [Abstract] [Full Text] [Related]
11. 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 Dec 15; 34(5):390-5. PubMed ID: 25827695 [Abstract] [Full Text] [Related]
12. Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. Shen J, Liu HM, Bao Y, Chen YT. J Med Genet; 1997 Jan 15; 34(1):34-8. PubMed ID: 9032647 [Abstract] [Full Text] [Related]
13. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C. CMAJ; 2015 Feb 03; 187(2):E68-E73. PubMed ID: 25602008 [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 01; 109(3):183-90. PubMed ID: 11977176 [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 01; 54(11):681-6. PubMed ID: 19834502 [Abstract] [Full Text] [Related]
16. Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S, Lucchiarri S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi GP, Gribaa M. J Hum Genet; 2012 Mar 01; 57(3):170-5. PubMed ID: 22089644 [Abstract] [Full Text] [Related]
17. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X. J Hum Genet; 2016 Jul 01; 61(7):641-5. PubMed ID: 26984562 [Abstract] [Full Text] [Related]
18. Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M. J Hum Genet; 2005 Jul 01; 50(10):538-542. PubMed ID: 16189622 [Abstract] [Full Text] [Related]
19. [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 01; 47(8):608-12. PubMed ID: 19951495 [Abstract] [Full Text] [Related]
20. Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China. Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W. BMC Med Genet; 2018 Apr 04; 19(1):54. PubMed ID: 29614965 [Abstract] [Full Text] [Related] Page: [Next] [New Search]