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Items: 1 to 20 of 105

1.

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M.

Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. No abstract available.

PMID:
20158661
2.

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
3.

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
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.

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
7.

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
8.

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
9.

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.

10.

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 3;187(2):E68-73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.

11.

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
12.

[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
13.

[AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].

Wu XY, Pan JX, Guo YB.

Zhonghua Er Ke Za Zhi. 2013 Dec;51(12):915-9. Chinese.

PMID:
24495762
14.

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
15.

[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
16.

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
17.

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G.

J Inherit Metab Dis. 1999 Aug;22(6):762-3. No abstract available.

PMID:
10472540
18.

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;61(7):641-5. doi: 10.1038/jhg.2016.24. Epub 2016 Mar 17.

PMID:
26984562
19.

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
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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