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Results: 1 to 20 of 139

Similar articles for PubMed (Select 19299494)

1.

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.

Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.

Hum Mol Genet. 2009 Jun 1;18(11):2045-52. doi: 10.1093/hmg/ddp128. Epub 2009 Mar 19.

2.

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. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16.

PMID:
19834502
3.

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M.

Clin Chem Lab Med. 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281.

PMID:
19754354
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.

PMID:
10571954
5.

Molecular characterization of glycogen storage disease type III.

Shen JJ, Chen YT.

Curr Mol Med. 2002 Mar;2(2):167-75. Review.

PMID:
11949933
6.

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.

PMID:
12955720
7.

[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. Chinese.

PMID:
19951465
8.

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 1;109(3):183-90.

PMID:
11977176
9.

[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. Chinese.

PMID:
15833157
11.

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.

Cheng A, Zhang M, Gentry MS, Worby CA, Dixon JE, Saltiel AR.

Genes Dev. 2007 Oct 1;21(19):2399-409.

12.

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. doi: 10.1097/GIM.0b013e3181d94eaa.

PMID:
20648714
13.

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;106(1):108-15.

PMID:
10982190
14.

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. doi: 10.1515/CCLM.2008.252.

PMID:
18785866
15.

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.

Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT.

J Pediatr. 1990 Jan;116(1):95-100.

PMID:
2295969
16.

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.

PMID:
16705713
17.

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M.

J Hum Genet. 2006;51(11):958-63. Epub 2006 Sep 19.

PMID:
17047887
18.

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.

PMID:
12442284
19.

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;50(10):538-42. Epub 2005 Sep 28.

PMID:
16189622
20.
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