Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Roberto GiuglianiAnneliese Lopes BarthMelissa Rossi Calvão DumasJosé Francisco da Silva FrancoLiane de Rosso GiulianiCarlos Henrique Paiva GrangeiroDafne Dain Gandelman HorovitzChong Ae KimEmilia Katiane Embiruçu de Araújo LeãoPaula Frassinetti Vasconcelos de MedeirosDiego Santana Chaves Geraldo MiguelMaria Espírito Santo Almeida MoreiraHelena Maria Guimarães Pimentel Dos SantosLuiz Carlos Santana da SilvaLuiz Roberto da SilvaIsabel Neves de SouzaTatiele NalinDaniel GarciaPublished in: Orphanet journal of rare diseases (2021)
This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.