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Results: 1 to 20 of 516

1.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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;69(1):16-23.

PMID:
10655153
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Molecular characterization of glycogen storage disease type III.

Shen JJ, Chen YT.

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

PMID:
11949933
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
8755644
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
19299494
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
12955720
[PubMed - indexed for MEDLINE]
13.

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

Lam CW, Lee AT, Lam YY, Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF.

Mol Genet Metab. 2004 Nov;83(3):271-5.

PMID:
15542399
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
11924557
[PubMed - indexed for MEDLINE]
15.

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;57(3):170-5. doi: 10.1038/jhg.2011.122. Epub 2011 Nov 17. Erratum in: J Hum Genet. 2012 Mar;57(3):221. Lucchiari, Sabrina [corrected to Lucchiarri, Sabrina]; Cherif, Wafa [removed];Abdelhak, Sonia [added].

PMID:
22089644
[PubMed - indexed for MEDLINE]
16.

[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
[PubMed - indexed for MEDLINE]
17.
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
[PubMed - indexed for MEDLINE]
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. doi: 10.1111/j.1399-0004.2011.01806.x. Epub 2011 Nov 23.

PMID:
22035446
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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