International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Mari‐Anne Vals, Romain Péanne et al.|Journal of Inherited Metabolic Disease|2019Cited by 149
Mutational spectrum of classical galactosaemia in Spain and PortugalLaura Gort, P. Briones, M. Santos‐Leite et al.|Journal of Inherited Metabolic Disease|2006Cited by 22
[Cerebrotendinous xanthomatosis without tendinous xanthomas: presentation of two cases].Jaume Campdelacreu, Eva Tolosa, E. Rozas Muñoz et al.|PubMed|2002Cited by 12