Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II Bruno de Oliveira Stephan; Caio Robledo Quaio; Gustavo Marquezani Spolador; Ana Carolina de Paula; Marco Antônio Curiati; Ana Maria Martins; Gabriela Nunes Leal; Artur Tenorio; Simone Finzi; Flavia Teixeira Chimelo; Carla Gentile Matas; Rachel Sayuri Honjo; Debora Romeo Bertola; Chong Ae Kim;

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome Samar Nasser Chehimi; Vanessa Tavares Almeida; Amom Mendes Nascimento; Évelin Aline Zanardo; Yanca Gasparini de Oliveira; Gleyson Francisco da Silva Carvalho; Beatriz Martins Wolff; Marilia Moreira Montenegro; Nilson Antônio de Assunção; Chong Ae Kim; Leslie Domenici Kulikowski;

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital Amanda M. Narcizo; Lais C. Cardoso; Anna F.F. Benedetti; Alexander A.L. Jorge; Mariana F.A. Funari; Barbara L. Braga; Monica M. Franca; Luciana R. Montenegro; Antonio M. Lerario; Mirian Y. Nishi; Berenice B. Mendonca;