Search Results - "Gonzalez Chamorro, A"

251P Latin-SEQ: a collaborative network to provide genetic diagnosis to patients with neuromuscular diseases in Latin America – project update by Topf, A., Gonzalez-Chamorro, A., Laurie, S., Ntalis, A. Papakonstantinou, Consortium, Latin SEQ, Diaz-Manera, J.

“…Next generation sequencing has revolutionized the diagnostic process of patients with neuromuscular diseases. However, access to these technologies in less…”
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P123 MRI based criteria to differentiate dysferlinopathies from other genetic muscle diseases by Diaz, C Bolaño, Verdu-Diaz, J., Gonzalez-Chamorro, A., Straub, V., Manera, J Diaz

“…Muscle MRI is a useful tool for the diagnosis of neuromuscular diseases as it identifies selective patterns of pathology that are characteristic of a specific…”
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O04 Myoguide.org: a web-based portal supporting the analysis of MRIs for the diagnosis of neuromuscular patients by Diaz, C Bolaño, Diaz, J Verdu, Chamorro, A Gonzalez, Veeranki, G., Llauger, J., Manera, J Diaz

“…Muscle magnetic resonance imaging (MRI) is a useful tool to study muscle structure in patients with genetic neuromuscular diseases (NMDs), as it can easily…”
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P297 Validation of a blood-based assay for dysferlinopathy in a Latin American cohort by Barresi, R., Töpf, A., Gonzalez-Chamorro, A., Diaz-Manera, J., Emmons, S., Rufibach, L.

“…We have developed a simple diagnostic immunoassay to detect dysferlin expression on neutrophils in peripheral blood films (PBF) and tested its accuracy on…”
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674P Quantification of skeletal muscle glycogen in late onset Pompe patients using carbon MR spectroscopy at 3 Tesla by Chamorro, A. Gonzalez, Wilson, I., Bolaño, C., Hollingsworth, K., James, M., Wong, K., Fitzsimmons, S., Diaz Manera, J., Thelwall, P.

“…Pompe disease is a rare genetic disorder resulting from a deficiency of the enzyme alpha-glucosidase. Late onset Pompe patients (LOPD) develop slowly…”
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652P Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants by Poulsen, N., Palmio, J., Jokela, M., Claeys, K., Iterbeke, L., De Bleecker, J., De Vos, E., Domínguez-González, C., Bermejo-Guerrero, L., Muelas, N., Vilchez, J., Gonzalez-Chamorro, A., Diaz-Manera, J., Straub, V., Straathof, C., Niks, E., Voermans, N., Cameron, D., Vissing, J.

“…The anoctamin 5 gene (ANO5) encodes the anoctamin 5 protein that acts as a calcium-sensitive chloride channel. Pathogenic ANO5 variants give rise to four main…”
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Graft mass and volume calculation in living related donors for liver transplantation by González-Chamorro, A, Loinaz Segurola, C, Moreno González, E, Jiménez Romero, C, González-Pinto Arrillaga, I, Gomez Sanz, R, Garcia Garcia, I, Manzanera Diaz, M, Alonso Casado, O

“…Living related liver transplantation is one of the strategies currently used to increase the donor pool. A preoperative and non-invasive estimate of the…”
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P303 Latin-Seq: a new collaborative network to provide genetic diagnosis to patients with neuromuscular diseases in Latin-America by Diaz-Manera, J., Topf, A., González-Chamorro, A., Beltran, S.

“…Next generation sequencing (NGS) has revolutionized the diagnostic process of patients with neuromuscular diseases. However, access to these technologies in…”
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Recipient Factors as Determinants of Mortality after Adult Liver Transplantation by Palma, Fermin, Jimenez, Carlos, Moreno, Enrique, Loinaz, Carmelo, Garcia, Ignacio, Palomo, Juan Carlos, Hernandez, Diego, Gonzalez‐Chamorro, Antonio

“… The factors that can influence the outcome of orthotopic liver transplantation (OLT) are numerous. The purpose of this study was to determine the effects of…”
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Abdomen agudo en la enfermedad celiaca: yeyunoileítis ulcerativa Acute abdomen in celiac disease: Ulcerative jejunoileitis by I. M. Méndez Sánchez, G. García Fernández, T. Pereda Salguero, A. González Chamorro, A. Obispo Entrenas, R. Rivera Irigoin, E. Ubiña Aznar, F. M. Vera Rivero, P. Moreno Mejías, N. Fernández Moreno, A. Pérez Aisa, J. M. Navarro Jarabo, C. Albandea Moreno, F. Fernández Pérez, A. Sánchez Cantos

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Erythromycin and prolonged postoperative paralytic ileus by Moreno Sanz, C, Jiménez Romerro, C, Rico Selas, P, Seoane Gonzalez, J, Hidalgo Pascual, M, De la Calle Santiuste, A, Gonzalez Chamorro, A, Moreno Gonzalez, E

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Bilateral hydronephrosis secondary to ileocolic Crohn's disease by Palma Carazo, F, Marchal Escalona, C, De Sola Earle, C, González Chamorro, A, Bercedo Martínez, J, Gándara Adán, N

“…Unilateral hydronephrosis can complicate a far from negligible number of patients with Crohn's disease. Bilateral hydronephrosis associated with Crohn's…”
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Abdomen agudo en la enfermedad celiaca: yeyunoileítis ulcerativa by Méndez Sánchez, I. M., García Fernández, G., Pereda Salguero, T., González Chamorro, A., Obispo Entrenas, A., Rivera Irigoin, R., Ubiña Aznar, E., Vera Rivero, F. M., Moreno Mejías, P., Fernández Moreno, N., Pérez Aisa, A., Navarro Jarabo, J. M., Albandea Moreno, C., Fernández Pérez, F., Sánchez Cantos, A.

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Primary dysfunction after liver transplantation. Is it possible to predict this complication? by Moreno Sanz, C, Jiménez Romero, C, Moreno González, E, García García, I, Seoane González, I, Loinaz Segurola, C, García Ureña, M A, González Chamorro, A

“…the aim of this study was to evaluate potential risk factors related to the development of primary liver graft dysfunction (PDF), including initial poor…”
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Acute abdomen in celiac disease: ulcerative jejunoileitis by Méndez Sánchez, I M, García Fernández, G, Pereda Salguero, T, González Chamorro, A, Obispo Entrenas, A, Rivera Irigoín, R, Ubiña Aznar, E, Vera Rivero, F M, Moreno Mejías, P, Fernández Moreno, N, Pérez Aísa, A, Navarro Jarabo, J M, Albandea Moreno, C, Fernández Pérez, F, Sánchez Cantos, A

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Budd-Chiari syndrome: current medical-surgical management by Jiménez Romero, C, González Chamorro, A, Rodríguez Cañete, A, Moreno Sanz, C, Rodríguez Romano, D, Manzanera Díaz, M, Núñez Alonso, V, Hidalgo Pascual, M, Moreno González, E

“…The Budd-Chiari syndrome or obstruction of the hepatic veins and/or suprahepatic inferior vena cava is a rare process, frequently associated with…”
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Acute abdomen in celiac disease: ulcerative jejunoileitis by Méndez Sánchez, I M, García Fernández, G, Pereda Salguero, T, González Chamorro, A, Obispo Entrenas, A, Rivera Irigoín, R, Ubiña Aznar, E, Vera Rivero, F M, Moreno Mejías, P, Fernández Moreno, N, Pérez Aísa, A, Navarro Jarabo, J M, Albandea Moreno, C, Fernández Pérez, F, Sánchez Cantos, A

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