Search Results - "Patier, Jose Luis"

Screening for late-onset Pompe disease in Internal Medicine departments in Spain by López-Rodríguez, Mónica, Torralba-Cabeza, Miguel Angel, de Pedro, Iván Pérez, Rivera, Alberto, Gil, Roi Suarez, Gómez-Belda, Ana, de la Peéa, Jose Luis Patier, de los Santos Moreno, Alberto, Selva-O'Callaghan, Albert, Gárate, Igor Gómez, García, Andrés González, Hurtado, Roberto, de Ureta, Pablo Tutor, Barba-Romero, Miguel Ãngel, Milisenda, José C, Grau-Junyent, Josep M

“…Abstract Background The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease,…”
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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry by Sánchez-Martínez, Rosario, Iriarte, Adriana, Mora-Luján, José María, Patier, José Luis, López-Wolf, Daniel, Ojeda, Ana, Torralba, Miguel Angel, Juyol, María Coloma, Gil, Ricardo, Aéón, Sol, Salazar-Mendiguchía, Joel, Riera-Mestre, Antoni, Alonso-Cotoner, C, Aéón, S, Beneyto, M, Bermejo-Olano, M. M, Cerdà, P, Cruellas, F, De Los Santos, A, Díez, L, Fernández, A, García-Morillo, J. S, Gil, R, Gómez-Cerezo, J. F, Gómez del Olmo, V, González-García, A, Iriarte, A, Iglesias, P, Juyol, M. C, López-Osle, N, López, M, López-Wolf, D, Mora-Luján, J. M, Moreno, M, Ojeda, A, Patier, J. L, Pérez de León, J. A, Perez, M. L, Riera-Mestre, A, Rivera, S, Rodríguez, S, Sánchez-Martínez, R, Torralba, M. A, Zarrabeitia, R

“…Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in…”
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Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management by Viteri-Noël, Adrian, González-García, Andrés, Patier, José Luis, Fabregate, Martin, Bara-Ledesma, Nuria, López-Rodríguez, Mónica, Gómez del Olmo, Vicente, Manzano, Luis

“…Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis…”
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An 84-Year-Old Woman with a Rare Cause of Constipation by Sánchez-Conde, Matilde, Patier, Jose Luis, Molina, Javier, García, Lorena, de la Calle, José Luis

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Non-Hodgkin lymphomas after remission of human immunodeficiency virus-associated lymphomas in the highly active antiretroviral therapy era by Patier, José Luis, Moreno-Cobo, María Angeles, García-Cosío, Mónica, Montalbán Sanz, Carlos

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The impact of immune dysregulation on the risk of malignancy in common variable immunodeficiency: insights from a multicenter study by Cabañero-Navalon, Marta Dafne, Garcia-Bustos, Victor, Balastegui-Martin, Héctor, Bracke, Carmen, Mateu, Lourdes, Solanich, Xavier, Carrillo-Linares, Juan Luis, Robles-Marhuenda, Angel, Puchades, Francesc, Pelaez Ballesta, Ana, Lopez-Osle, Nuria, Torralba-Cabeza, Miguel Ángel, Bielsa Masdeu, Ana María, Gil Niño, Jorge, Tornador Gaya, Nuria, Castellanos, Guillem Pascual, Sánchez-Martínez, Rosario, Barragán-Casas, José Manuel, González-García, Andrés, Patier de la Peña, José Luis, López-Wolf, Daniel, Rufete, Antonia Mora, Canovas Mora, Alba, Moral Moral, Pedro

“…Common Variable Immunodeficiency (CVID) represents a heterogenic group of primary immunodeficiencies (PID) characterized by impaired antibody production and…”
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Aortitis in the setting of catastrophic antiphospholipid syndrome in a patient with systemic lupus erythematosus by González-García, Andrés, López-Rodríguez, Mónica, Redondo, Sandra, Patier, José Luis, Masso, Pilar, Tenorio, María, Fajardo, Grisel Starita, Sarhane, Yasmina, Lacalzada, Miguel Martínez, Manzano, Luis

“…Catastrophic antiphospholipid syndrome (CAPS) is a rare condition characterized by multiple thromboses affecting mainly small vessels in a short period of time…”
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Tacrolimus as a Promising Drug for Epistaxis and Gastrointestinal Bleeding in HHT by Álvarez-Hernández, Paloma, Patier, José Luis, Marcos, Sol, Gómez Del Olmo, Vicente, Lorente-Herraiz, Laura, Recio-Poveda, Lucía, Botella, Luisa María, Viteri-Noël, Adrián, Albiñana, Virginia

“…Hereditary Hemorrhagic Telangiectasia (HHT) is a vascular autosomically inherited rare disease. Epistaxis (nose bleeds) is the most common symptom in HHT,…”
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Rhabdomyolysis caused by the association of simvastatin and risperidone by Patier, José Luis, Ferrere, Federico, Moreno-Cobo, María Angeles, Echaniz, Ana

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Topically Applied Etamsylate: A New Orphan Drug for HHT-Derived Epistaxis (Antiangiogenesis through FGF Pathway Inhibition) by Albiñana, Virginia, Giménez-Gallego, Guillermo, García-Mato, Angela, Palacios, Patricia, Recio-Poveda, Lucia, Cuesta, Angel-M, Patier, José-Luis, Botella, Luisa-María

“…Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by recurrent and spontaneous epistaxis (nose bleeds), telangiectases on skin…”
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Clinical and pathological characteristics of Castleman disease: an observational study in a Spanish tertiary hospital by González-García, Andrés, Patier de la Peña, José Luis, García-Cosio, Mónica, Sarhane, Yasmina, Sánchez Díaz, Cristina, Barbolla Díaz, Ignacio, López Rodríguez, Mónica, Moreno, María Ángeles, Villarubia, Jesús, Manzano, Luis

“…Castleman disease (CD) represents a heterogeneous group of lymphoproliferative disorders that share well-defined histopathological features. An observational…”
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ACCELERATE: A Patient-Powered Natural History Study Design Enabling Clinical and Therapeutic Discoveries in a Rare Disorder by Pierson, Sheila K., Khor, Johnson S., Ziglar, Jasira, Liu, Amy, Floess, Katherine, NaPier, Erin, Gorzewski, Alexander M., Tamakloe, Mark-Avery, Powers, Victoria, Akhter, Faizaan, Haljasmaa, Eric, Jayanthan, Raj, Rubenstein, Arthur, Repasky, Mileva, Elenitoba-Johnson, Kojo, Ruth, Jason, Jacobs, Bette, Streetly, Matthew, Angenendt, Linus, Patier, Jose Luis, Ferrero, Simone, Zinzani, Pier Luigi, Terriou, Louis, Casper, Corey, Jaffe, Elaine, Hoffmann, Christian, Oksenhendler, Eric, Fosså, Alexander, Srkalovic, Gordan, Chadburn, Amy, Uldrick, Thomas S., Lim, Megan, van Rhee, Frits, Fajgenbaum, David C.

“…Geographically dispersed patients, inconsistent treatment tracking, and limited infrastructure slow research for many orphan diseases. We assess the…”
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Expert consensus on the integrated diagnosis of idiopathic multicentric Castleman disease by Montes-Moreno, Santiago, Climent, Fina, Fraga, Máximo, Luis Patier, José, Robles-Marhuenda, Ángel, García-Sanz, Ramón, Ocio, Enrique M, González García, Andrés, Navarro, José-Tomás

“…Idiopathic multicentric Castleman disease (iMCD) is rare. The differential diagnosis includes inflammatory, autoimmune and neoplastic disease. The…”
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Miescher Syndrome: An Uncommon Cause of Recurrent Swelling of the Lips by González-García, Andrés, Barbolla Díaz, Ignacio, Sifuentes Giraldo, Walter Alberto, Patier-de la Peña, José Luis

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Intermittent macroscopic haematuria: an unusual manifestation of amyloidosis complicating cystic fibrosis by Patier, J L, Máiz, L, Frutos, B, Suárez, L, Escobar, H

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An 84-Year-Old Woman with a Rare Cause of Constipation by Sánchez-Conde, Matilde, Patier, Jose Luis, Molina, Javier, García, Lorena, de la Calle, José Luis

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Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry by Cabañero-Navalon, Marta Dafne, Garcia-Bustos, Victor, Nuñez-Beltran, Maria, Císcar Fernández, Pascual, Mateu, Lourdes, Solanich, Xavier, Carrillo-Linares, Juan Luis, Robles-Marhuenda, Ángel, Puchades-Gimeno, Francesc, Pelaez Ballesta, Ana, López-Osle, Nuria, Torralba-Cabeza, Miguel Ángel, Bielsa Masdeu, Ana María, Diego Gil, Jorge, Tornador Gaya, Nuria, Pascual Castellanos, Guillem, Sánchez-Martínez, Rosario, Barragán-Casas, José Manuel, González-García, Andrés, Patier de la Peña, José Luís, López-Wolf, Daniel, Mora Rufete, Antonia, Canovas Mora, Alba, Forner Giner, Maria José, Moral Moral, Pedro

“…Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum…”
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CHARACTERISTICS OF PATIENTS WITH CASTLEMAN'S DISEASE IN AN INTERNAL MEDICINE DEPARTMENT by Rojas-Marcos, Jorge, González, Andrés, Escribano, Marta, Montalbán, Carlos, Navas, Enrique, Fraile, Guadalupe, Garcia Cossio, Monica, Luis Patier, José

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Unusual cases in multiple myeloma and a dramatic response in metastatic lung cancer: Case 3. Intracranial plasmacytoma with cranial nerve neuropathy in multiple myeloma by Montalban, Carlos, Martín-Aresti, José, Patier, José Luis, Millan, Juan Martinez-San, Cosio, Mónica García

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Sporadic hepatitis E in Spain: study of 9 autochthonous and 3 imported cases by Mateos, María Luisa, Molina, Auxiliadora, Patier, José Luis, Moreira, Víctor

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