P. Dolhem

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

L. de Meirleir, D. Ardigò, A. Lund, 2018, Journal of Inherited Metabolic Disease.

The KBG syndrome: an additional sporadic case.

B. Devauchelle, M. Mathieu, C. Piussan, 2000, Genetic counseling.