Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

BACKGROUND: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardio...

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Detalles Bibliográficos
Autores principales: Honjo, Rachel Sayuri, Vaca, Evelyn Cristina Nuñez, Leal, Gabriela Nunes, Abellan, Deipara Monteiro, Ikari, Nana Miura, Jatene, Marcelo Biscegli, Martins, Ana Maria, Kim, Chong Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031867/
https://www.ncbi.nlm.nih.gov/pubmed/32075597
http://dx.doi.org/10.1186/s12881-020-0972-y

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