Title |
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
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Published in |
BMC Neurology, October 2015
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DOI | 10.1186/s12883-015-0412-3 |
Pubmed ID | |
Authors |
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 |
Abstract |
Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 67% |
United Kingdom | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 33% |
Members of the public | 1 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 155 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 21 | 14% |
Student > Ph. D. Student | 19 | 12% |
Researcher | 18 | 12% |
Student > Master | 11 | 7% |
Other | 10 | 6% |
Other | 37 | 24% |
Unknown | 39 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 49 | 32% |
Biochemistry, Genetics and Molecular Biology | 10 | 6% |
Nursing and Health Professions | 10 | 6% |
Agricultural and Biological Sciences | 6 | 4% |
Engineering | 6 | 4% |
Other | 25 | 16% |
Unknown | 49 | 32% |