Search Results - de Dios Garcia-Diaz, Juan

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  1. 1
    Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1

    Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1 by García-Díaz, Juan de Dios, Balsa-Vázquez, Javier, Rodríguez-Villa, Ana, Férriz, Esther

    Published in Pediatric dermatology
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  2. 2
    Primary constitutional MLH1 epimutations: a focal epigenetic event

    Primary constitutional MLH1 epimutations: a focal epigenetic event by Dámaso, Estela, Castillejo, Adela, Arias, María del Mar, Canet-Hermida, Julia, Navarro, Matilde, del Valle, Jesús, Campos, Olga, Fernández, Anna, Marín, Fátima, Turchetti, Daniela, García-Díaz, Juan de Dios, Lázaro, Conxi, Genuardi, Maurizio, Rueda, Daniel, Alonso, Ángel, Soto, Jose Luis, Hitchins, Megan, Pineda, Marta, Capellá, Gabriel

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  3. 3
    Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

    Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals by de Dios García-Díaz, Juan, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Riera-Mestre, Antoni

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  4. 4
    Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

    Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3 by Briet, Claire, Pereda, Arrate, Le Stunff, Catherine, Motte, Emmanuelle, de Dios Garcia-Diaz, Juan, de Nanclares, Guiomar Perez, Dumaz, Nicolas, Silve, Caroline

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  5. 5
    Fabry Nephropathy: An Evidence-Based Narrative Review

    Fabry Nephropathy: An Evidence-Based Narrative Review by del Pino, María, Andrés, Amado, Bernabéu, Ana Ávila, de Juan-Rivera, Joaquín, Fernández, Elvira, de Dios García Díaz, Juan, Hernández, Domingo, Luño, José, Fernández, Isabel Martínez, Paniagua, José, Posada de la Paz, Manuel, Rodríguez-Pérez, José Carlos, Santamaría, Rafael, Torra, Roser, Ambros, Joan Torras, Vidau, Pedro, Torregrosa, Josep-Vicent

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  6. 6
    Amiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico

    Amiloidosis renal hereditaria por depósito de apolipoproteína AI: un reto diagnóstico by Samillán-Sosa, Kelly del Rocío, Sención-Martínez, Gloria, Lopes-Martín, Vanessa, Martínez-González, Miguel Angel, Solé, Manel, Arostegui, Jose Luis, Mesa, Jose, García-Díaz, Juan de Dios, Rodríguez-Puyol, Diego, Martínez-Miguel, Patricia

    Published in Nefrología
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  7. 7
    Ultra-rapid insulin in mitochondrial diabetes: Two clinical cases

    Ultra-rapid insulin in mitochondrial diabetes: Two clinical cases by Simões de Carvalho, Francisco, de Brito Marques, Francisca, Lopes, Ana Elisa, Lima Ferreira, Joana, Carneiro de Melo, Pedro

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  8. 8
    Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge

    Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge by del Rocío Samillán-Sosa, Kelly, Sención-Martínez, Gloria, Lopes-Martín, Vanessa, Martínez-González, Miguel Angel, Solé, Manel, Arostegui, Jose Luis, Mesa, Jose, García-Díaz, Juan de Dios, Rodríguez-Puyol, Diego, Martínez-Miguel, Patricia

    Published in Nefrología
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  9. 9
    Novel therapeutics in hypertriglyceridaemia and chylomicronaemia

    Novel therapeutics in hypertriglyceridaemia and chylomicronaemia by García Díaz, Juan de Dios

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  10. 10
    Changes in lipid profile after biliopancreatic diversion

    Changes in lipid profile after biliopancreatic diversion by García-Díaz, Juan de Dios, Lozano, Oscar, Ramos, Juan Carlos, Gaspar, Maria Jesús, Keller, Jerry, Duce, Antonio Martín

    Published in Obesity surgery
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  11. 11
    Werner syndrome as a crossroads between lipodystrophy, escleroderma-like changes and torpid ulcers in lower limbs

    Werner syndrome as a crossroads between lipodystrophy, escleroderma-like changes and torpid ulcers in lower limbs by García Díaz, Juan de Dios, Coronado Fernández, Sandra, Jiménez, Sara, Rubio, José Antonio, Bohórquez Heras, Cristina

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  12. 12
    Long-term treatment persistence and maintained reduction of LDL-cholesterol levels with evolocumab over 30 months: Results from the Spanish cohort of the European prospective HEYMANS study

    Long-term treatment persistence and maintained reduction of LDL-cholesterol levels with evolocumab over 30 months: Results from the Spanish cohort of the European prospective HEYMA... by Blanco Echevarría, Agustín, García Díaz, Juan De Dios, Caixas, Assumpta, Plana Gil, Núria, Rico Corral, Miguel Ángel, Bridges, Ian, Dhalwani, Nafeesa, Gatell Menchen, Sònia, Ray, Kausik K.

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  13. 13
    Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation

    Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation by Karabul, Nesrin, Bradley, Aoife, de Dios García Díaz, Juan, Figuera, Luis, Gal, Andreas, Giugliani, Roberto, Goker-Alpan, Ozlem, Lavery, Christine, Mehta, Atul, Thompson, Lorraine, Sakai, Norio, Warnock, David G.

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  14. 14
    Polyarteritis nodosa after interferon treatment for chronic hepatitis C

    Polyarteritis nodosa after interferon treatment for chronic hepatitis C by de Dios García-Díaz, Juan, García-Sánchez, Marta, Busteros, José Ignacio, Arcos, Pilar

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  15. 15
    Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

    Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor by Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, Del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N, Martínez-Glez, Víctor

    Published in PloS one
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  16. 16
    Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome

    Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome by GARCIA-DIAZ, Juan De, ALVAREZ-BLANCO, Maria José

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