Guffon N

ORCID: 0000-0002-3052-2366 · 1 paper in corpus

2019

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

European journal of pediatrics ·doi:10.1007/s00431-019-03330-x

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 catab…