Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Issue title: Abstracts from the 7th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014

Article type: Research Article

Authors: Llerena Jr, Juan C.^; | Esposito, Ana Carolina | Barth, Anneliese | Souza e Silva, Daniel | Cavalcanti, Nicollete | Sixel, Bruna | Magalhães, Tatiana | Scalco, Fernanda | Oliveira, Maria Lúcia | Riello, Anna Patrícia | Horotvitz, Dafne

Affiliations: Centro de Genética Médica, Instituto Nacional Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil | Faculdades Arthur Sá Earp (FASE), Faculdade de Medicina, Petrópolis, Rio de Janeiro, Brazil | LABEIM (Laboratório de Erros Inatos do Metabolismo), Instituto de Química, Departamento de Bioquímica, UFRJ, Rio de Janeiro, Brazil | Lab's D'Or, Rio de Janeiro, Brazil

Note: [] Correspondence to: Juan C. Llerena Jr, Centro de Genética Médica, Instituto Nacional Fernandes Figueira, Fiocruz, Faculdades Arthur Sá Earp (FASE), Faculdade de Medicina, Petrópolis, Rio de Janeiro, Brazil. E-mail: llerena@iff.fiocruz.br

DOI: 10.3233/JND-159022

Journal: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S24-S24, 2015