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The British Journal of Dermatology|October 9, 2002
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuriaE Vargas-Díez, A Chabás, M J Coll, et al.
Anales Espanoles De Pediatria|April 1, 1986
[Niemann-Pick disease, type A and subendocardial fibroelastosis]C Mencía Fernández, E Ramos Polo, A Chabás, et al.
Clinical Genetics|December 1, 1993
Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish populationA Chabás, S Castellvi, M Bayés, et al.
American Journal of Medical Genetics|December 18, 1998
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutationB Cormand, T L Harboe, L Gort, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|July 2, 2005
[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]O Sardón, C García Pardos, J Mintegui, et al.
Acta Neuropathologica|February 4, 1999
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variantT Pàmpols, M Pineda, M L Girós, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial diseaseP Briones, M A Vilaseca, M T García-Silva, et al.
Journal of Medical Genetics|September 1, 1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationA Chabás, B Cormand, D Grinberg, et al.
Revista De Neurologia|October 1, 1996
[Evolutive neuroradiological alterations in Sandhoff's disease]L G Gutiérrez-Solana, M L Ruiz-Falcó, J J García-Peñas, et al.
Clinical Genetics|September 10, 2010
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant allelesI Canals, S C Elalaoui, M Pineda, et al.
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