Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation | BMC Medical Genetics | Full Text

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation | BMC Medical Genetics | Full Text

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

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-sulf...

Authors:Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins and Chong Ae Kim

Citation:BMC Medical Genetics 2020 21:37

Content type:Case report

Published on: 19 February 2020

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