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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1997 | 1 |
2008 | 1 |
2012 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.
Hum Mutat. 2008.
PMID: 18425781
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.
Bali DS, et al.
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22252923
Free PMC article.
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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.
Nicolino M, et al.
Biochem Biophys Res Commun. 1997 Jun 9;235(1):138-41. doi: 10.1006/bbrc.1997.6749.
Biochem Biophys Res Commun. 1997.
PMID: 9196050
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Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Stepien KM, Hendriksz CJ, Roberts M, Sharma R.
Stepien KM, et al.
Mol Genet Metab. 2016 Apr;117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4.
Mol Genet Metab. 2016.
PMID: 26873529
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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group.
Papadopoulos C, et al.
Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20.
Mol Genet Metab. 2017.
PMID: 28648663
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