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Items: 1 to 20 of 98

1.

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

Fujimoto S, Manabe Y, Fujii D, Kozai Y, Matsuzono K, Takahashi Y, Narai H, Omori N, Adachi K, Nanba E, Nishino I, Abe K.

Intern Med. 2013;52(21):2461-4.

2.

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
3.

Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.

Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T.

Intern Med. 2011;50(24):2987-91. Epub 2011 Dec 15.

4.

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2012 May;22(5):389-93. doi: 10.1016/j.nmd.2011.11.003. Epub 2011 Dec 21.

PMID:
22196155
5.

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG.

Neurology. 2005 Jan 25;64(2):368-70.

PMID:
15668445
6.

[Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].

Zhang HB, Zhang WM, Qiu JJ, Meng Y, Qiu ZQ.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):415-9. Chinese.

PMID:
22931935
7.

[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].

Guevara-Campos J, Romeo-Villarroel MA, González-De Guevara L, Escobar V.

Rev Neurol. 2013 Sep 16;57(6):265-8. Spanish.

8.

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
9.
10.

[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].

Qiu JJ, Wei M, Zhang WM, Shi HP.

Zhonghua Er Ke Za Zhi. 2007 Oct;45(10):760-4. Chinese.

PMID:
18211760
11.

Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.

Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.

Biochem Biophys Res Commun. 1997 Jun 9;235(1):138-41.

PMID:
9196050
12.

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.

13.

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.

Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

PMID:
21484825
14.

[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
15.

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.

16.

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
17.

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
18.

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.

19.

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N.

Am J Hum Genet. 1995 Apr;56(4):887-97.

20.

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

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