A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

1. Pérez, B.
2. Medrano, C.
3. Ecay, M.J.
4. Ruiz-Sala, P.
5. Martínez-Pardo, M.
6. Ugarte, M.
7. Pérez-Cerdá, C.