title: Phosphomannomutase deficiency and normal pubertal development.
authors.affiliation: Servei de Pediatria, Unitat de Neuropediatria, Consorci Hospitalari del Parc Tauli, Sabadell, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Artigas
authors.forename: E
authors.initials: E
authors.lastname: Cardo
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: R
authors.initials: R
authors.lastname: Nosas
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000293:Adolescent; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*; D011627:Puberty
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase