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Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

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Journal of Inherited Metabolic Disease

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References

  • Beutler E, Demina A, Gelbart T (1994) Glucocerebrosidase mutations in Gaucher disease.Mol Med 1: 82–92.

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  • Chabás A, Cormand B, Grinberg D, et al (1995) Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.J Med Genet 32: 740–742.

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  • Cormand B, Vilageliu L, Burguera JM, et al (1995) Gaucher disease in Spanish patients: analysis of eight mutations.Hum Mutat 5: 303–309.

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Authors and Affiliations

  1. Institut de Bioquímica Clínica, Corporació Sanitària, 08290, Cerdanyola (Barcelona), Spain

    A. Chabás

  2. Department de Genètica, Universitat de Barcelona, Spain

    B. Cormand, S. Balcells, R. González-Duarte, Ll. Vilageliu & D. Grinberg

  3. Departamento de Pediatria, Hospital de Sagunto, Valencia

    C. Casanova

  4. Department de Neurologia, Hospital de Sant Joan de Déu, Barcelona, Spain

    J. Colomer

Authors
  1. A. Chabás
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  2. B. Cormand
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  3. S. Balcells
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  4. R. González-Duarte
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  5. C. Casanova
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  6. J. Colomer
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  7. Ll. Vilageliu
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  8. D. Grinberg
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Chabás, A., Cormand, B., Balcells, S. et al. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. J Inherit Metab Dis 19, 798–800 (1996). https://doi.org/10.1007/BF01799179

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  • DOI: https://doi.org/10.1007/BF01799179

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