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

• Príomhchruthaitheoirí: Rachel Sayuri Honjo (Údar), Evelyn Cristina Nuñez Vaca (Údar), Gabriela Nunes Leal (Údar), Deipara Monteiro Abellan (Údar), Nana Miura Ikari (Údar), Marcelo Biscegli Jatene (Údar), Ana Maria Martins (Údar), Chong Ae Kim (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-02-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract 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...