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Items: 1 to 20 of 119

1.

Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.

Kondo Y, Usui H, Ishige-Wada M, Murase T, Owada M, Okubo M.

Clin Chim Acta. 2013 Sep 23;424:19-21. doi: 10.1016/j.cca.2013.05.007. Epub 2013 May 13.

PMID:
23688858
2.

Molecular characterization of glycogen storage disease type III.

Shen JJ, Chen YT.

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

PMID:
11949933
3.

[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
4.

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
5.

Glycogen storage disease type III in the Irish population.

Crushell E, Treacy EP, Dawe J, Durkie M, Beauchamp NJ.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S215-8. doi: 10.1007/s10545-010-9096-4. Epub 2010 May 20.

PMID:
20490926
6.

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
8.

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M.

Clin Chim Acta. 2015 Jan 15;439:162-7. doi: 10.1016/j.cca.2014.10.016. Epub 2014 Oct 23.

PMID:
25451950
9.

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
10.

Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease.

Siciliano M, De Candia E, Ballarin S, Vecchio FM, Servidei S, Annese R, Landolfi R, Rossi L.

J Clin Gastroenterol. 2000 Jul;31(1):80-2.

PMID:
10914784
11.

[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
12.

A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy.

Kobayashi A, Nishinomiya F, Fukamachi Y, Ohtaka M, Yamamoto J, Takagi K, Tanaka S, Takizawa S, Imadachi H, Fukase M, et al.

Tohoku J Exp Med. 1995 Jul;176(3):181-5.

13.

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. doi: 10.3350/kjhep.2008.14.2.219.

14.

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
15.

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
16.

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS.

J Hum Genet. 2014 Jan;59(1):42-5. doi: 10.1038/jhg.2013.117. Epub 2013 Nov 21.

PMID:
24257475
17.

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
18.

Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group.

Haagsma EB, Smit GP, Niezen-Koning KE, Gouw AS, Meerman L, Slooff MJ.

Hepatology. 1997 Mar;25(3):537-40.

PMID:
9049194
19.

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 Sep-Oct;34(5):390-5. doi: 10.5144/0256-4947.2014.390.

20.

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.

PMID:
9584265

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