Title: | Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease |
Journal : | The Journal of pediatrics |
Authors: | Gupta N, Author ; Kazi ZB ; Nampoothiri S ; Jagdeesh S ; Kabra M ; Puri RD ; Muranjan M ; Kalaivani M ; Rehder C ; Bali D ; Verma IC ; Kishnani PS |
Material Type: | Article |
Publisher: | United States, 10/2019 |
Languages: | English |
Keywords : | cross-sectional study ; disease natural history ; early-onset Pompe disease ; enzymotherapy ; genotypes ; glycogen storage disease ; India ; muscle glycogen storage disease ; neuromuscular disease ; phenotypes ; Pompe disease ; retrospective studies |
Keywords: | GAA variants;classic;cross-reactive immunologic material;enzyme-replacement therapy;infantile-onset Pompe disease;non-classic; |
Pubmed / DOI : | Pubmed : 31606152 / DOI : 10.1016/j.jpeds.2019.08.058 |
N° Profil MNM : | 2019101 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31606152 |