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

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@article{Prez2012ANC, title={A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene}, author={Bel{\'e}n P{\'e}rez and Celia Medrano and Maria Jesus Ecay and Pedro Ru{\'i}z-Sala and Mercedes Mart{\'i}nez-Pardo and Magdalena Ugarte and Celia P{\'e}rez-Cerd{\'a}}, journal={Journal of Inherited Metabolic Disease}, year={2012}, volume={36}, pages={535-542} }