Search Results - "Málaga, I"

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    Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper by Zozaya, N, Villaseca, J, Abdalla, F, Ancochea, A, Málaga, I, Trapero-Bertran, M, Martín-Sobrino, N, Delgado, O, Ferré, P, Hidalgo-Vega, A

    Published in Orphanet journal of rare diseases (24-02-2023)
    “…In recent years, significant advances have been made in the field of rare diseases (RDs). However, there is a large number of RDs without specific treatment…”
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    Journal Article Conference Proceeding
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    PP13.2 – 3042: Infantile spasms in an infant with anti-NMDA receptor encephalitis secondary to HSV-1 encephalitis by Málaga, I, Roncero, I, Santoveña-González, L, Blanco-Lago, R, Rekarte, S, Armangué, T, Dalmau, J

    Published in European journal of paediatric neurology (01-05-2015)
    “…Objective The recent identification of NMDAR antibodies causing choreoatethosis post-herpes simplex encephalitis (HSE) has provided a proof of principle that…”
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    Journal Article
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    Neurological dysfunction induced by bilirrubin by Campistol, J., Galvez, H., Cazorla, A. García, Málaga, I., Iriondo, M., Cusí, V.

    Published in Neurología (Barcelona, English ed. ) (01-05-2012)
    “…“Kernicterus” is a term currently used to describe bilirubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we…”
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    Journal Article
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    Disfunción neurológica inducida por bilirrubina by Campistol, J, Galvez, H, Cazorla, A. García, Málaga, I, Iriondo, M, Cusí, V

    Published in Neurología (Barcelona, Spain) (01-05-2012)
    “…Resumen El término “kernicterus” se aplicó inicialmente a la tinción amarilla de los ganglios basales en estudios necrópsicos, pero es un término impreciso y…”
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    Journal Article
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    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

    Published in PloS one (31-05-2016)
    “…Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate…”
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    Journal Article
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    Neurological dysfunction induced by bilirrubin by Campistol, J, Galvez, H, Cazorla, A García, Málaga, I, Iriondo, M, Cusí, V

    Published in Neurologia (Barcelona, Spain) (01-05-2012)
    “…"Kernicterus" is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we…”
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    Journal Article
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    Sodium taste threshold in children and its relationship to blood pressure by Arguelles, J, Diaz, J J, Malaga, I, Perillan, C, Costales, M, Vijande, M

    “…Popular science has emphasized the risks of high sodium intake and many studies have confirmed that salt intake is closely related to hypertension. The present…”
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    Journal Article
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    Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas by Llano-Rivas, I, Soler-Sánchez, T, Málaga-Diéguez, I, Fernández-Toral, J

    “…Resumen La incontinencia pigmenti (IP) es un trastorno neurocutáneo raro, con una frecuencia de 1 en 50.000 recién nacidos, de etiología genética asociada a…”
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    Journal Article
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