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Items: 1 to 20 of 107

1.

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V.

Genet Test Mol Biomarkers. 2010 Dec;14(6):835-7. doi: 10.1089/gtmb.2010.0038. Epub 2010 Nov 1. Erratum in: Genet Test Mol Biomarkers. 2011 May;15(5):369.

PMID:
21039225
2.

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

Er TK, Chen CC, Chien YH, Liang WC, Kan TM, Jong YJ.

Clin Chim Acta. 2014 Feb 15;429:18-25. doi: 10.1016/j.cca.2013.10.013. Epub 2013 Oct 24.

PMID:
24444888
3.

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.

Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30.

PMID:
24976573
4.

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

Fu L, Qiu W, Yu Y, Guo Y, Zhao P, Zhang X, Liu C, Li F, Huang H, Huang M, Chen S.

Gene. 2014 Feb 1;535(1):53-9. doi: 10.1016/j.gene.2013.10.066. Epub 2013 Nov 21.

PMID:
24269976
5.

Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.

Lin CY, Shieh JJ.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 Mar-Apr;37(2):115-21.

PMID:
8935410
6.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK.

J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y. Epub 2009 Jul 9.

PMID:
19588081
7.

Novel GAA mutations in patients with Pompe disease.

Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.

Gene. 2015 Apr 25;561(1):124-31. doi: 10.1016/j.gene.2015.02.023. Epub 2015 Feb 12.

PMID:
25681614
8.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.

Mol Genet Metab. 2012 Nov;107(3):485-9. doi: 10.1016/j.ymgme.2012.09.003. Epub 2012 Sep 7.

PMID:
23000108
9.

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.

J Neurol. 2008 Jun;255(6):831-8. doi: 10.1007/s00415-008-0714-0. Epub 2008 May 6.

PMID:
18458862
10.

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.

Mol Genet Metab. 2007 Dec;92(4):325-35. Epub 2007 Aug 27.

PMID:
17723315
11.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
12.

Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.

Aykut A, Onay H, Kose M, Erbas Canda E, Karaca E, Coker M, Ozkinay F.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1265-7. doi: 10.1515/jpem-2014-0107.

PMID:
25026126
13.

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Liu X, Wang Z, Jin W, Lv H, Zhang W, Que C, Huang Y, Yuan Y.

BMC Med Genet. 2014 Dec 20;15:141. doi: 10.1186/s12881-014-0141-2.

14.

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Yang CC, Chien YH, Lee NC, Chiang SC, Lin SP, Kuo YT, Chen SS, Jong YJ, Hwu WL.

Mol Genet Metab. 2011 Nov;104(3):284-8. doi: 10.1016/j.ymgme.2011.06.010. Epub 2011 Jun 22.

PMID:
21757382
15.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

16.

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ.

BMJ Case Rep. 2015 Jul 9;2015. pii: bcr2015210688. doi: 10.1136/bcr-2015-210688.

PMID:
26160551
17.

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.

Gene. 2014 Mar 1;537(1):41-5. doi: 10.1016/j.gene.2013.12.033. Epub 2013 Dec 30.

PMID:
24384324
18.

[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

Liu Q, Zhao J, Wang ZX, Zhang W, Yuan Y.

Zhonghua Yi Xue Za Zhi. 2013 Jul 2;93(25):1981-5. Chinese.

PMID:
24169249
19.

Molecular genetic study of Pompe disease in Chinese patients in Taiwan.

Ko TM, Hwu WL, Lin YW, Tseng LH, Hwa HL, Wang TR, Chuang SM.

Hum Mutat. 1999;13(5):380-4.

PMID:
10338092
20.

Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.

Park HD, Lee DH, Choi TY, Lee YK, Lee SY, Kim JW, Ki CS, Lee YW.

Ann Clin Lab Sci. 2013 Summer;43(3):311-6.

PMID:
23884227

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