Search Results - "Rodríguez Doyágüez, Pablo"

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    Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report by Rodríguez Doyágüez, Pablo, Furlano, Mónica, Ars Criach, Elisabet, Arce, Yolanda, Guirado, Lluís, Torra Balcells, Roser

    Published in Nefrología (01-12-2023)
    “…Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This…”
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    Journal Article
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    Double Hit of Hydroxichloroquine and Amiodarone Induced Renal Phospholipidosis in a Patient with Monoclonal Gammopathy and Sclerodermiform Syndrome: A Case Report and Review of the Literature by De la Flor, José C, Rodríguez-Doyágüez, Pablo, Villa, Daniel, Zamora, Rocío, Díaz, Francisco

    Published in Medical sciences (Basel) (15-05-2024)
    “…Phospholipidosis is a rare disorder which consists of an excessive intracellular accumulation of phospholipids and the appearance of zebra bodies or lamellar…”
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    Journal Article
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    Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso by Rodríguez Doyágüez, Pablo, Furlano, Mónica, Ars Criach, Elisabet, Arce, Yolanda, Guirado, Lluís, Torra Balcells, Roser

    Published in Nefrología (01-12-2023)
    “…Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en…”
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    Journal Article
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    Monoclonal gammopathy of renal significance: An atypical presentation of Waldenström's disease by Rodríguez-Doyágüez, Pablo, Motornaya-Morozova, Martínez-Miguel, Patricia, Castillo-Torres, Carolina, Toldos-González, Óscar, Gil-Fernández, Juan José

    Published in Clinical nephrology. Case studies (2024)
    “…Waldenström's disease is a rare lymphoproliferative syndrome in the bone marrow and sometimes in lymphoid organs which secretes high amounts of monoclonal…”
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    Journal Article
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    Monoclonal gammopathy of renal significance: An atypical presentation of Waldenström's disease by Rodríguez-Doyágüez, Pablo, Martínez-Miguel, Patricia, Castillo-Torres, Carolina, Toldos-González, Óscar, Gil-Fernández, Juan José

    Published in Clinical nephrology. Case studies (01-01-2024)
    “…Waldenström's disease is a rare lymphoproliferative syndrome in the bone marrow and sometimes in lymphoid organs which secretes high amounts of monoclonal…”
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  12. 12

    Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report by Rodríguez Doyágüez, Pablo, Furlano, Mónica, Ars Criach, Elisabet, Arce, Yolanda, Guirado, Lluís, Torra Balcells, Roser

    Published in Nefrologia (01-12-2023)
    “…Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This…”
    Get full text
    Report
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