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

• Главные авторы: Rachel Sayuri Honjo (Автор), Evelyn Cristina Nuñez Vaca (Автор), Gabriela Nunes Leal (Автор), Deipara Monteiro Abellan (Автор), Nana Miura Ikari (Автор), Marcelo Biscegli Jatene (Автор), Ana Maria Martins (Автор), Chong Ae Kim (Автор)
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• Опубликовано: BMC, 2020-02-01T00:00:00Z.
• Предметы: article
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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...