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Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradati...

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Detalles Bibliográficos
Autores principales: Guffon, Nathalie, Journeau, Pierre, Brassier, Anaïs, Leger, Juliane, Chevallier, Bertrand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438949/
https://www.ncbi.nlm.nih.gov/pubmed/30740618
http://dx.doi.org/10.1007/s00431-019-03330-x