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Kecskemethy, Heidi H Kubaski, Francyne Harcke, H T Tomatsu, Shunji
Published in
Molecular genetics and metabolism
Mucopolysaccharidosis IV A (MPS IV A), Morquio A, is caused by deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which is responsible for the catabolism of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S). Accumulation of GAGs results in disrupted cartilage formation and skeletal dys...
Ashworth, Jane Flaherty, Maree Pitz, Susanne Ramlee, Azura
Published in
Acta ophthalmologica
Patients with MPS need regular assessment for possible glaucoma including during childhood. Multiple factors contribute to the challenges of assessment, diagnosis and monitoring of glaucoma in these patients.
Harmatz, Paul Mengel, Karl Eugen Giugliani, Roberto Valayannopoulos, Vassili Lin, Shuan-Pei Parini, Rossella Guffon, Nathalie Burton, Barbara K. Hendriksz, Christian J. Mitchell, John
...
Web of Science
Harmatz, Paul Mengel, Karl Eugen Giugliani, Roberto Valayannopoulos, Vassili Lin, Shuan-Pei Parini, Rossella Guffon, Nathalie Burton, Barbara K. Hendriksz, Christian J. Mitchell, John
...
Web of Science
