Search Results - Chamoles, N.A

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  1. 1
    Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

    Fabry disease: enzymatic diagnosis in dried blood spots on filter paper by Chamoles, N.A, Blanco, M, Gaggioli, D

    Published in Clinica chimica acta
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  2. 2
    An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family

    An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family by De Gregorio, L., Nyhan, W.L., Serafin, E., Chamoles, N.A.

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  3. 3
    2-14-03 The IgG oligoclonal banding (OB) in the cerebrospinal fluid (CSF) of non multiple sclerosis (MS) patients

    2-14-03 The IgG oligoclonal banding (OB) in the cerebrospinal fluid (CSF) of non multiple sclerosis (MS) patients by Chamoles, N.A., Manescau, M., Schenone, A., Fuertes, A., Fusta, M.

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  4. 4
    1-09-05 L-2-hydroxyglutaric aciduria (L2HGA): Three new cases followed during 5 years

    1-09-05 L-2-hydroxyglutaric aciduria (L2HGA): Three new cases followed during 5 years by Chamoles, N.A., Sfaello, Z., Jorge, L., Fusta, M.

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  5. 5
    3-33-02 Mild mitochondrial myopathy due to the A3243G point mutation in the tRNA (LEU(UUR)) gene

    3-33-02 Mild mitochondrial myopathy due to the A3243G point mutation in the tRNA (LEU(UUR)) gene by Morgan-Hughes, J., Fusta, M., Campoy, C., Chamoles, N.A.

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  6. 6
    3-33-03 Phenotypic variation in 8 patients with multiple acyl-Coa-dehydrogenase deficiency (MAD)

    3-33-03 Phenotypic variation in 8 patients with multiple acyl-Coa-dehydrogenase deficiency (MAD) by Abdenur, J.E., Castaño, J., Di Martino, A., Rojas, E., Ruggieri, V., Chamoles, N.A.

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