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

BACKGROUND: 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. METHODS: An expert panel from the M...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Neurol
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Correspondence
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4608291/
https://ncbi.nlm.nih.gov/pubmed/26471939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-015-0412-3
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