Article
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Molecular genetics and metabolism - 1 Jul 2013
Yasuda Eriko, Fushimi Kazunari, Suzuki Yasuyuki, Shimizu Katsuji, Takami Tsuyoshi, Zustin Jozef, Patel Pravin, Ruhnke Kristen, Shimada Tsutomu, Boyce Bobbie, Kokas Terry, Barone Carol, Theroux Mary, Mackenzie William, Nagel Barbara, Ryerse Jan S, Orii Kenji E, Iida Hiroki, Orii Tadao, Tomatsu Shunji
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase, which results in systemic accumulation of glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. Accumulation of these GAGs causes characteristic features as disproportionate dwarfism associated with skeletal deformities, genu valgum, pigeon...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.