Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

Abstract 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...

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Bibliographic Details
Main Authors: Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis type VII
Sly disease
Lysosomal storage disorder
Glycosaminoglycans
Beta-glucuronidase deficiency
Online Access:https://doi.org/10.1186/s13023-021-01870-w

Internet

https://doi.org/10.1186/s13023-021-01870-w

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