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Showing 1 to 3 of 3 for “"MPS IVA"”.
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Development of a Cellular Model for Morquio A Syndrome
<p>Mucopolysaccharidosis IVA (MPS IVA; Morquio A), is a lysosomal storage disorder characterized by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), resulting in the accumulation of glycosaminoglycans (GAGs) such as keratan sulfate (KS) (Northover et al., 1996) and …
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Analysis of Macrophage-‐Derived Inflammatory Response in the Presence of Glycosaminoglycans: A Possible Clue on the Role of Inflammation in the Pathogenesis of Morquio A
… glycosaminoglycans. Mucopolysaccharidosis IVA (MPS IVA or Morquio A syndrome) is characterized by the functional loss of the enzyme N-‐acetylgalactosamine-‐6-‐ sulfatase (GALNS). The absence of GALNS leads to the chronic accumulation of the glycosaminoglycans keratan sulfate (KS) and …
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Evaluation of Select Publicly Available in Silico Methods for Predicting Functional Effects of Missense Mutations in the GALNS Gene
… or potentially associated, with Morquio A (MPS IVA), a rare, autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In the severe form of the disease, life expectancy is less than 30 years. More than 200 …