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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Publicado en:European Journal of Pediatrics Vol. 178; no. 4; pp. 593 - 604
Autores principales: Guffon, Nathalie, Journeau, Pierre, Brassier, Anaïs, Leger, Juliane, Chevallier, Bertrand
Formato: Journal Article
Publicado: Springer Nature Apr2019
Acceso en línea:Ver este registro en EBSCOhost