Publicacions
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Chabás A, Cormand B, Balcells S, Gonzalez R, Casanova C, Colomer J, Vilageliu L and Grinberg-Vaisman DR.
Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.
JOURNAL OF INHERITED METABOLIC DISEASE . 19(6): 798-800. Nº de cites: 15
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Cormand B, Vilageliu L, Balcells S, Gonzalez R, Chabás A and Grinberg-Vaisman DR.
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
HUMAN MUTATION . 7(3): 272-274.
[doi:10.1002/(SICI)1098-1004(1996)7:3272::AID-HUMU143.0.CO;2-#]
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Chabás A, Cormand B, Grinberg-Vaisman DR, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez R and Vilageliu L.
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
JOURNAL OF MEDICAL GENETICS . 32(9): 740-742. Nº de cites: 93
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Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzalez R, Grinberg-Vaisman DR and Chabás A.
Gaucher disease in Spanish patients: analysis of eight mutations.
HUMAN MUTATION . 5(4): 303-309. Nº de cites: 47