Jaume Colomer

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

M. Pineda, J. Jaeken, P. Briones, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth

C. Paradas, T. Jaijo, J. Colomer, 2013, Clinical genetics.