Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "M6P"

Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "M6P"

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  • CURY, G. K.; MATTE, U.; ARTIGALAS, O.; ALEGRA, T.; VELHO, R. V.; SPERB, F.; BURIN, M. G.; RIBEIRO, E. M.; LOURENCO, C. M.; KIM, C. A.; VALADARES, E. R.; GALERA, M. F.; ACOSTA, A. X.; SCHWARTZ, I. V. D. (ELSEVIER SCIENCE BV, AMSTERDAM, NETHERLANDS, 2013)
    Mucolipidosis H and HI (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the alpha and beta subunits of ...

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