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ИНТЕРНЕТ-МАГАЗИН
Издательство Атмосфера


Телефон издательства

  
Нервные болезни
2019 / N 3

Болезнь Помпе с поздним началом: клиническая семиотика и дифференциальная диагностика
С.А. Клюшников

References

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82. Hanisch F, Rahne T, Plontke SK. Prevalence of hearing loss in patients with late-onset Pompe disease: audiological and otological consequences. International Journal of Audiology 2013 Dec;52(12):816-23.
83. Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F. Pain in adult patients with Pompe disease: a cross-sectional survey. Molecular Genetics and Metabolism 2013 Aug;109(4):371-6.
84. Chaudhuri A, Behan PO. Fatigue in neurological disorders. The Lancet 2004 Mar;363(9413):978-88.
85. Groen WB, Leen WG, Vos AM, Cruysberg JR, van Doorn PA, van Engelen BG. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2006 Dec;67(12):2261-2.
86. Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T–>G) mutation in a majority of patients and a novel IVS10 (1GT–>CT) mutation. Human Molecular Genetics1994 Dec;3(12):2231-6.
87. Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS. Clinical and histologic ocular findings in Pompe disease. Journal of Pediatric Ophthalmology and Strabismus 2010 Jan-Feb;47(1):34-40.
88. Gesquière-Dando A, Attarian S, Maues De Paula A, Pouget J, Salort-Campana E. Fibromyalgia-like symptoms associated with irritable bowel syndrome: a challenging diagnosis of late-onset Pompe disease. Muscle & Nerve 2015 Aug;52(2):300-4.
89. Remiche G, Herbaut AG, Ronchi D, Lamperti C, Magri F, Moggio M, Bresolin N, Comi GP. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. European Neurology 2012;68(2):75-8.
90. Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F. Urge incontinence and gastrointestinal symptoms in adult patients with Pompe disease: a cross-sectional survey. JIMD Reports 2014;17:53-61.
91. Pardo J, Garcia-Sobrino T, López-Ferreiro A. Gastrointestinal symptoms in late onset Pompe disease: early response to enzyme replacement therapy. Journal of the Neurological Sciences 2015;353(1-2):181-2.
92. Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Annals of Translational Medicine 2019 Jul;7(13):284.
93. Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN, Soher BJ, Kishnani PS, Bashir MR. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease. Muscle & Nerve 2015 May;51(5):722-30.
  

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