Publikationen in Zusammenarbeit mit Forschern von Hospital Ramón y Cajal (2)

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2013

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

    Journal of Inherited Metabolic Disease, Vol. 36, Núm. 3, pp. 535-542