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The Molecular Basis of Canavan (Aspartoacylase Deficiency) Disease in European Non-Jewish Patients

Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable...

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Detalhes bibliográficos
Main Authors: Shaag, A., Anikster, Y., Christensen, E., Glustein, J. Z., Fois, A., Michelakakis, H., Nigro, F., Pronicka, E., Ribes, A., Zabot, M. T., Elpeleg, O. N.
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801272/
https://ncbi.nlm.nih.gov/pubmed/7668285
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