An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family
De Gregorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.
Published in Molecular genetics and metabolism (01.03.2000)
Published in Molecular genetics and metabolism (01.03.2000)
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Journal Article
An unexpected female patient within a classical Lesch-Nyhan family
De Greqorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.
Published in Genetics in medicine (01.01.2000)
Published in Genetics in medicine (01.01.2000)
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1-09-05 L-2-hydroxyglutaric aciduria (L2HGA): Three new cases followed during 5 years
Chamoles, N.A., Sfaello, Z., Jorge, L., Fusta, M.
Published in Journal of the neurological sciences (01.09.1997)
Published in Journal of the neurological sciences (01.09.1997)
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3-33-02 Mild mitochondrial myopathy due to the A3243G point mutation in the tRNA (LEU(UUR)) gene
Morgan-Hughes, J., Fusta, M., Campoy, C., Chamoles, N.A.
Published in Journal of the neurological sciences (01.09.1997)
Published in Journal of the neurological sciences (01.09.1997)
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Journal Article