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One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN.
Combined surgery with 3-in-1 osteosynthesis in congenital pseudarthrosis of the tibia with intact fibula.
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.