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