Article
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Orphanet journal of rare diseases - 22 May 2021
Giugliani Roberto, Barth Anneliese Lopes, Dumas Melissa Rossi Calvão, da Silva Franco José Francisco, de Rosso Giuliani Liane, Grangeiro Carlos Henrique Paiva, Horovitz Dafne Dain Gandelman, Kim Chong Ae, de Araújo Leão Emilia Katiane Embiruçu, de Medeiros Paula Frassinetti Vasconcelos, Miguel Diego Santana Chaves Geraldo, Moreira Maria Espírito Santo Almeida, Dos Santos Helena Maria Guimarães Pimentel, da Silva Luiz Carlos Santana, da Silva Luiz Roberto, de Souza Isabel Neves, Nalin Tatiele, Garcia Daniel
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the "MPS Brazil Network"...
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