.
https://doi.org/10.17650/2222-8721-2016-6-3-24-27
About the Authors
Lukacs ZoltanGermany
Paulina Nieves Cobos
Germany
Stephan Wenninger
Germany
Tracey A. Willis
United Kingdom
Michela Guglieri
United Kingdom
Marc Roberts
United Kingdom
Rosaline Quinlivan
United Kingdom
David Hilton-Jones
United Kingdom
Teresinha Evangelista
United Kingdom
Stephan Zierz
Germany
Beate Schlotter-Weigel
Germany
Maggie C Walter
Germany
Peter Reilich
Germany
Thomas Klopstock
Germany
Marcus Deschauer
Germany
Volker Straub
United Kingdom
Wolfgang Müller-Felber
Germany
Benedikt Schoser
Germany
References
1. van der Ploeg A.T., Reuser A.J. Pompe’s disease. Lancet 2008;372(9646):1342–53. DOI: 10.1016/S0140-6736(08)61555-X. PMID: 18929906.
2. Gьngцr D., de Vries J.M., Hop W.C. et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 2011;6:34. DOI: 10.1186/1750-1172-6-34. PMID: 21631931.
3. Schьller A., Wenninger S., Strigl-Pill N., Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 2012;160C(1):80–8. DOI: 10.1002/ajmg.c.31322. PMID: 22253010.
4. Kishnani P.S., Amartino H.M., Lindberg C. et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.Am J Med Genet A 2013;161A(10):2431–43. DOI: 10.1002/ajmg.a.36110. PMID: 23997011.
5. Lukacs Z., Nieves C.P., Mengel E. et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes: possibility for newborn screening. J Inherit Metab Dis 2010;33(1):43–50. DOI: 10.1007/s10545- 009-9003-z. PMID: 20033296.
6. Gutiйrrez-Rivas E., Bautista J., Vнlchez J.J. et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015;25(7):548–53. DOI: 10.1016/j. nmd.2015.04.008. PMID: 25998610.
7. Musumeci O., la Marca G., Spada M. et al. LOPED Study: looking for an early diagnosis in a late-onset Pompe disease highrisk population. J Neurol Neurosurg Psychiatry 2016;87(1):5–11. DOI: 10.1136/jnnp-2014-310164. PMID: 25783438.
8. Palmio J., Auranen M., Kiuru-Enari S. et al. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord 2014;24(11):982–5. DOI: 10.1016/j.nmd.2014.06.438. PMID: 25047669.
9. Spada M., Porta F., Vercelli L. et al. Screening for lateronset Pompe’s disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013;109(2):171–3. DOI: 10.1016/j.ymgme.2013.03.002. PMID: 23566438.
10. Preisler N., Lukacs Z., Vinge L. et al. Lateonset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 2013;110(3):287–9. DOI: 10.1016/j. ymgme.2013.08.005. PMID: 24011652.
11. Goldstein J.L., Young S.P., Changela M. et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009;40(1): 32–6. DOI: 10.1002/mus.21376. PMID: 19533645.
12. Pérez-López J., Selva-O’Callaghan A., Grau-Junyent J.M. et al. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyper-CKemia. Mol Genet Metab 2015;114(4):580–3. DOI: 10.1016/j.ymgme.2015.02.004. PMID: 25752415.
13. Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нервно-мышечных болезней. Неврологический журнал 2015;20(5):26–33. DOI: 10.18821/1560-9545-2015-20-5-26-33. [Nikitin S.S. Asymptomatic elevation of creatine kinase in neuromuscular diseases. Nevrologicheskiy zhurnal = The Neurological Journal 2015;20(5):26–33. DOI: 10.18821/1560-9545-2015-20-5-26-33. (In Russ.)].
14. Schoser B., Toscano A. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 2013;260(4):951–9. DOI: 10.1007/s00415-012-6636-x. PMID: 22926164.
Review
For citations:
Zoltan L., Nieves Cobos P., Wenninger S., Willis T.A., Guglieri M., Roberts M., Quinlivan R., Hilton-Jones D., Evangelista T., Zierz S., Schlotter-Weigel B., Walter M.C., Reilich P., Klopstock T., Deschauer M., Straub V., Müller-Felber W., Schoser B. . Neuromuscular Diseases. 2016;6(3):24-27. (In Russ.) https://doi.org/10.17650/2222-8721-2016-6-3-24-27