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International Journal of Audiology Volume 52, 2013 - Issue 12
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Research Article

Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences

F. HanischDepartment of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), GermanyCorrespondence[email protected]
,
T. RahneDepartment of Otorhinolaryngology, Head and Neck Surgery, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany
&
S.K. PlontkeDepartment of Otorhinolaryngology, Head and Neck Surgery, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany
Pages 816-823 | Received 02 May 2013, Accepted 31 Aug 2013, Published online: 25 Oct 2013

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Ilka Schneider & Stephan Zierz. (2016) Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability. Research and Reports in Endocrine Disorders 6, pages 1-9.
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William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani & Dwight D. Koeberl. (2023) Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy . JIMD Reports 64:5, pages 393-400.
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David Bakhos, Hélène Blasco, John J. GalvinIIIIII, Carlos R. Ferreira & Nenad Blau. (2022) Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease. Molecular Genetics and Metabolism 137:3, pages 223-229.
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Katarzyna Iwanicka-Pronicka, Joanna Trubicka, Edyta Szymanska, Elżbieta Ciara, Dariusz Rokicki, Agnieszka Pollak & Maciej Pronicki. (2021) Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. International Journal of Pediatric Otorhinolaryngology 151, pages 110970.
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T.-T. Trinh, H. Blasco, F. Maillot & D. Bakhos. (2021) Hearing loss in inherited metabolic disorders: A systematic review. Metabolism 122, pages 154841.
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Athanasia Warnecke & Anja Giesemann. (2021) Embryologie, Fehlbildungen und seltene Erkrankungen der Cochlea. Laryngo-Rhino-Otologie 100:S 01, pages S1-S43.
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Ilka Schneider, Stephan Zierz, Stephan Schulze, Karl-Stefan Delank, Kevin G. Laudner, Richard Brill & René Schwesig. (2020) Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease. Applied Sciences 10:19, pages 7001.
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S. S. Nikitin. (2020) Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs. Neuromuscular Diseases 9:4, pages 26-33.
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Alexander Peter Murphy & Volker Straub. 2018. Neurometabolic Hereditary Diseases of Adults. Neurometabolic Hereditary Diseases of Adults 99 120 .
Justin Chan, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones & Priya S. Kishnani. (2017) The emerging phenotype of late-onset Pompe disease: A systematic literature review. Molecular Genetics and Metabolism 120:3, pages 163-172.
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Jasmin B. Kuemmerle-Deschner, Assen Koitschev, Pascal N. Tyrrell, Stefan K. Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev & Susanne M. Benseler. (2015) Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. Pediatric Rheumatology 13:1.
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Fatma Al Jasmi, Mohammed Al Jumah, Fatimah Alqarni, Nouriya Al-Sanna’a, Fawziah Al-Sharif, Saeed Bohlega, Edward J. Cupler, Waseem Fathalla, Mohamed A. Hamdan, Nawal Makhseed, Shahriar Nafissi, Yalda Nilipour, Laila Selim, Nuri Shembesh, Rawda Sunbul & Seyed Hassan Tonekaboni. (2015) Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurology 15:1.
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Max J. Hilz, Ulrich Hoppe, Sebastian Moeller, Ruihao Wang & Julia Koehn. (2015) Can stapedius reflex testing objectively measure muscle function in Pompe patients?. Clinical Case Reports 3:11, pages 937-941.
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Federica Montagnese, E. Barca, O. Musumeci, S. Mondello, A. Migliorato, A. Ciranni, C. Rodolico, P. De Filippi, C. Danesino & A. Toscano. (2015) Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. Journal of Neurology 262:4, pages 968-978.
Crossref
Xiao Liu, Zhaoxia Wang, Weina Jin, He Lv, Wei Zhang, Chengli Que, Yu Huang & Yun Yuan. (2014) Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. BMC Medical Genetics 15:1.
Crossref
M. Boentert & P. Young. 2014. Angeborene Stoffwechselkrankheiten bei Erwachsenen. Angeborene Stoffwechselkrankheiten bei Erwachsenen 425 434 .

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