Article
Diagnosing mucopolysaccharidosis IVA.
Journal of inherited metabolic disease - 1 Mar 2013
Wood Timothy C, Harvey Katie, Beck Michael, Burin Maira Graeff, Chien Yin-Hsiu, Church Heather J, D'Almeida Vânia, van Diggelen Otto P, Fietz Michael, Giugliani Roberto, Harmatz Paul, Hawley Sara M, Hwu Wuh-Liang, Ketteridge David, Lukacs Zoltan, Miller Nicole, Pasquali Marzia, Schenone Andrea, Thompson Jerry N, Tylee Karen, Yu Chunli, Hendriksz Christian J
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA,...
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