Ontology highlight
ABSTRACT:
SUBMITTER: MENA Pompe Working Group
PROVIDER: S-EPMC4608291 | biostudies-other | 2015 Oct
REPOSITORIES: biostudies-other
Al Jasmi Fatma F Al Jumah Mohammed M Alqarni Fatimah F Al-Sanna'a Nouriya N Al-Sharif Fawziah F Bohlega Saeed S Cupler Edward J EJ Fathalla Waseem W Hamdan Mohamed A MA Makhseed Nawal N Nafissi Shahriar S Nilipour Yalda Y Selim Laila L Shembesh Nuri N Sunbul Rawda R Tonekaboni Seyed Hassan SH
BMC neurology 20151015
<h4>Background</h4>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.<h4>Methods</h4>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 prev ...[more]