J. C. Cabrera

Congenital disorder of glycosylation (CDG) type Ie. A new patient

T. Hennet, G. Matthijs, P. Briones, 2004, Journal of Inherited Metabolic Disease.

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2019, Clinical genetics.

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

M. Milá, L. Rodriguez-Revenga, I. Madrigal, 2010, Journal of Human Genetics.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

M. Marti, B. Pérez-Dueñas, M. I. Vanegas, 2020, Parkinsonism & related disorders.

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, European Journal of Pediatrics.