<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE root>
<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Neuromuscular Diseases</journal-id><journal-title-group><journal-title xml:lang="en">Neuromuscular Diseases</journal-title><trans-title-group xml:lang="ru"><trans-title>Нервно-мышечные болезни</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2222-8721</issn><issn publication-format="electronic">2413-0443</issn><publisher><publisher-name xml:lang="en">Publishing House ABV Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">168</article-id><article-id pub-id-type="doi">10.17650/2222-8721-2016-6-3-24-27</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>LECTURES AND REVIEWS</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ЛЕКЦИИ И ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">.</article-title><trans-title-group xml:lang="ru"><trans-title>Распространенность болезни Помпе у пациентов с идиопатической гиперкреатинкиназемией и слабостью поясно-конечностных мышц (анализ 3076 случаев)*</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name><surname>Zoltan</surname><given-names>Lukacs</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name><surname>Nieves Cobos</surname><given-names>Paulina</given-names></name><address><country country="DE">Germany</country></address></contrib><contrib contrib-type="author"><name><surname>Wenninger</surname><given-names>Stephan</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Willis</surname><given-names>Tracey A.</given-names></name><address><country country="GB">United Kingdom</country></address></contrib><contrib contrib-type="author"><name><surname>Guglieri</surname><given-names>Michela</given-names></name><address><country country="GB">United Kingdom</country></address><xref ref-type="aff" rid="aff19"/><xref ref-type="aff" rid="aff20"/></contrib><contrib contrib-type="author"><name><surname>Roberts</surname><given-names>Marc</given-names></name><address><country country="GB">United Kingdom</country></address></contrib><contrib contrib-type="author"><name><surname>Quinlivan</surname><given-names>Rosaline</given-names></name><address><country country="GB">United Kingdom</country></address></contrib><contrib contrib-type="author"><name><surname>Hilton-Jones</surname><given-names>David</given-names></name><address><country country="GB">United Kingdom</country></address></contrib><contrib contrib-type="author"><name><surname>Evangelista</surname><given-names>Teresinha</given-names></name><address><country country="GB">United Kingdom</country></address><xref ref-type="aff" rid="aff19"/><xref ref-type="aff" rid="aff20"/></contrib><contrib contrib-type="author"><name><surname>Zierz</surname><given-names>Stephan</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff15"/><xref ref-type="aff" rid="aff16"/></contrib><contrib contrib-type="author"><name><surname>Schlotter-Weigel</surname><given-names>Beate</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff17"/><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Walter</surname><given-names>Maggie C</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff17"/><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Reilich</surname><given-names>Peter</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff17"/><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Klopstock</surname><given-names>Thomas</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff17"/><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Deschauer</surname><given-names>Marcus</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff15"/><xref ref-type="aff" rid="aff16"/></contrib><contrib contrib-type="author"><name><surname>Straub</surname><given-names>Volker</given-names></name><address><country country="GB">United Kingdom</country></address><xref ref-type="aff" rid="aff19"/><xref ref-type="aff" rid="aff20"/></contrib><contrib contrib-type="author"><name><surname>Müller-Felber</surname><given-names>Wolfgang</given-names></name><address><country country="DE">Germany</country></address><xref ref-type="aff" rid="aff21"/><xref ref-type="aff" rid="aff18"/></contrib><contrib contrib-type="author"><name><surname>Schoser</surname><given-names>Benedikt</given-names></name><address><country country="DE">Germany</country></address><email>bschoser@med.uni-muenchen.de</email><xref ref-type="aff" rid="aff17"/><xref ref-type="aff" rid="aff18"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Hamburg, Germany</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik, University of Munich</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff4"><aff><institution xml:lang="en">Munich, Germany</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff5"><aff><institution xml:lang="en">The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff6"><aff><institution xml:lang="en">Oswestry, United Kingdom</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff7"><aff><institution xml:lang="en">Institute of Genetic Medicine</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff8"><aff><institution xml:lang="en">Newcastle, United Kingdom</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff9"><aff><institution xml:lang="en">Salford Royal NHS Foundation Trust</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff10"><aff><institution xml:lang="en">Salford, United Kingdom</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff11"><aff><institution xml:lang="en">UCL Institute of Neurology and National Hospital, Queen Square</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff12"><aff><institution xml:lang="en">London, United Kingdom</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff13"><aff><institution xml:lang="en">Department of Neurology, Oxford University Hospital</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff-alternatives id="aff14"><aff><institution xml:lang="en">Oxford, United Kingdom</institution></aff><aff><institution xml:lang="ru"></institution></aff></aff-alternatives><aff id="aff15"><institution>Department of Neurology, Halle University</institution></aff><aff id="aff16"><institution>Halle, Germany</institution></aff><aff id="aff17"><institution>Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich</institution></aff><aff id="aff18"><institution>Munich, Germany</institution></aff><aff id="aff19"><institution>Institute of Genetic Medicine</institution></aff><aff id="aff20"><institution>Newcastle, United Kingdom</institution></aff><aff id="aff21"><institution>Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik Ludwig Maximilian University of Munich</institution></aff><pub-date date-type="pub" iso-8601-date="2019-04-16" publication-format="electronic"><day>16</day><month>04</month><year>2019</year></pub-date><volume>6</volume><issue>3</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>24</fpage><lpage>27</lpage><history><date date-type="received" iso-8601-date="2016-10-12"><day>12</day><month>10</month><year>2016</year></date><date date-type="accepted" iso-8601-date="2016-10-12"><day>12</day><month>10</month><year>2016</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2019, 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.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2019, 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.</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="en">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.</copyright-holder><copyright-holder xml:lang="ru">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.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://nmb.abvpress.ru/jour/article/view/168">https://nmb.abvpress.ru/jour/article/view/168</self-uri><abstract xml:lang="en"><p>.</p></abstract><trans-abstract xml:lang="ru"><p/></trans-abstract><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B2"><label>2.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B3"><label>3.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B4"><label>4.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B5"><label>5.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B6"><label>6.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B7"><label>7.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B8"><label>8.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B9"><label>9.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B10"><label>10.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B11"><label>11.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B12"><label>12.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref><ref id="B13"><label>13.</label><citation-alternatives><mixed-citation xml:lang="en">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.)].</mixed-citation><mixed-citation xml:lang="ru">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.)].</mixed-citation></citation-alternatives></ref><ref id="B14"><label>14.</label><citation-alternatives><mixed-citation xml:lang="en">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.</mixed-citation><mixed-citation xml:lang="ru">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.</mixed-citation></citation-alternatives></ref></ref-list></back></article>
