Grabowski GA. Gaucher disease: lesson from a decade of therapy. J Pediatr ; 5 Immunochemical characterization of two activator proteins stimulating enzyme sphingomyelin degradation in vitro.
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Close search. Term search Jobs Translators Clients Forums. Term search All of ProZ. English term or phrase:. Infantile Cerebral Sphingolipidosis.
English term or phrase: Ifantile Cerebral Sphingolipidosis. It is a brain disorder, characterized by failure to thrive, blindness, seizures and progressive paralysis; most children die by the age of 4yrs.
Also know as Tay-Sachs. Local time: Explanation: Te copio un par de referencioas. Ocean Trans. Esfingolipidosis cerebral infantil Explanation: Te copio un par de referencioas.
Peer comments on this answer and responses from the answerer agree. Patricia Posadas. Login to enter a peer comment or grade. Es una enfermedad muy rara.
La relación genotipo y fenotipo de la enfermedad de Gaucher
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
Ifantile Cerebral Sphingolipidosis
On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia Thesis, Doctor of Medicine. Paris: Octave Doin; Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci.
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