The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia
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DOI: 10.1007/s12687-017-0329-1
Abstract: Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by… read more here.
Keywords: province saudi; eastern province; maroteaux lamy; clinical genetic ... See more keywords
Maroteaux-Lamy syndrome: a rare and challenging case of mitral valve replacement
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DOI: 10.1177/0218492316675533
Abstract: Maroteaux-Lamy syndrome is a very rare multisystem disorder. Cardiac valve surgery is common in these patients who present a unique set of perioperative and intraoperative challenges to the surgeon and treating team. We describe successful… read more here.
Keywords: syndrome rare; maroteaux lamy; mitral valve; valve replacement ... See more keywords
Cardiac Complications in Maroteaux-Lamy Syndrome: Case Report
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DOI: 10.17265/2328-2150/2018.04.012
Abstract: MLS (Maroteaux-Lamy syndrome) or MPS VI (mucopolysaccharidosis VI) is an autosomal recessive pathology in which there is absence or low activity of the enzyme N-Acetylgalactosamine-4-Sulfatase, which hydrolyzes GAGs (glycosaminoglycans) in the body (mainly dermatan sulfate).… read more here.
Keywords: cardiac complications; maroteaux lamy; lamy syndrome; case report ... See more keywords