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- W2003449370 abstract "Abstract Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine‐6‐sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non‐skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non‐skeletal manifestations and suggests long‐term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non‐skeletal features is needed to improve patient care." @default.
- W2003449370 created "2016-06-24" @default.
- W2003449370 creator A5005769736 @default.
- W2003449370 creator A5006247678 @default.
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- W2003449370 creator A5071316942 @default.
- W2003449370 creator A5072415019 @default.
- W2003449370 creator A5080899318 @default.
- W2003449370 date "2012-02-23" @default.
- W2003449370 modified "2023-10-11" @default.
- W2003449370 title "Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA" @default.
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