Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve...

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Bibliographic Details
Main Authors: Pallavelangini Swetha, Inusha Panigrahi, Akshay Saxena, Anupriya Kaur, Rozy Thakur
Format: Article
Language:English
Published: SciELO 2021-03-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Lysosomal disorders
mucopolysaccharidoses
glycosaminoglycans
Enzyme assay
coarse facies
organomegaly
short stature and dysostosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100503&tlng=en

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