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- W2164255556 abstract "La enfermedad de Gaucher se debe a mutaciones en el gen que codifica la glucocerebrosidasa. La mutación D409H es la tercera más frecuente en España y produce un fenotipo particular con apraxia oculomotora y calcificaciones cardiovasculares de presentación tardía. Se comunica un paciente de 4 años de edad, homozigoto para la mutación D409H, que fue díagnosticado a los 45 días de vida y que inició tratamiento enzimático sustitutivo a la edad de 2 meses. Se expone su evolución a los 4 años de tratamiento. Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45 days. Enzyme replacement therapy was started at the age of 2 months. We report the patient's evolution after 4 years of treatment." @default.
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- W2164255556 date "2001-01-01" @default.
- W2164255556 modified "2023-10-18" @default.
- W2164255556 title "Enfermedad de Gaucher (homozigoto D409H/D409H): evolución con tratamiento enzimático sustitutivo" @default.
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- W2164255556 doi "https://doi.org/10.1016/s1695-4033(01)77532-7" @default.
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