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Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.
📖 RevisãoUnraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.