Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto
Roche Bueno, J.C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M.D, Solera García, J
Published in Neurología (Barcelona, Spain) (01.06.2018)
Published in Neurología (Barcelona, Spain) (01.06.2018)
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Journal Article
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Roche Bueno, J.C., Arcos Sánchez, C., Salgado Álvarez de Sotomayor, F., Izquierdo-Álvarez, S., Miramar Gallart, M.D., Solera García, J.
Published in Neurología (Barcelona, English ed. ) (01.06.2018)
Published in Neurología (Barcelona, English ed. ) (01.06.2018)
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Journal Article
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Roche Bueno, J C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M D, Solera García, J
Published in Neurologia (Barcelona, Spain) (01.06.2018)
Get more information
Published in Neurologia (Barcelona, Spain) (01.06.2018)
Journal Article
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Roche Bueno, J C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M D, Solera García, J
Published in Neurologia (Barcelona, Spain) (01.06.2018)
Published in Neurologia (Barcelona, Spain) (01.06.2018)
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Clinical, electrophysiological and immunological evaluation of the response to treatment with intravenous immunoglobulins in several immune-mediated neuropathies
Larrodé-Pellicer, P, Salgado-Alvarez de Sotomayor, F, Iñíguez-Martínez, C, Santos, S, Tejero-Juste, C, Pascual-Millán, L F
Published in Revista de neurologiá (16.03.2005)
Published in Revista de neurologiá (16.03.2005)
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