Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group-Reference-Cited by-同舟云学术

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

Published:2015-10-15 Issue:1 Volume:15 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Al Jasmi Fatma, ,Al Jumah Mohammed,Alqarni Fatimah,Al-Sanna’a Nouriya,Al-Sharif Fawziah,Bohlega Saeed,Cupler Edward J.,Fathalla Waseem,Hamdan Mohamed A.,Makhseed Nawal,Nafissi Shahriar,Nilipour Yalda,Selim Laila,Shembesh Nuri,Sunbul Rawda,Tonekaboni Seyed Hassan

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12883-015-0412-3.pdf

Reference107 articles.

1. Muller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17:698–706.

2. Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011;158:1023–7. e1021.

3. Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379:335–41.

4. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109.

5. Gungor D, Kruijshaar ME, Plug I, D'Agostino Sr RB, Hagemans ML, van Doorn PA, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49.

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records;Scientific Reports;2024-09-14

2. Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease;Nature Communications;2024-09-08

3. Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration;Biomolecules;2024-05-13

4. Effects of enzyme replacement therapy on bone density in late onset Pompe disease;Molecular Genetics and Metabolism;2023-11

5. Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe;Fortschritte der Neurologie · Psychiatrie;2023-07-12