Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Martín-Hernández, Elena, Quijada-Fraile, Pilar, Correcher, Patricia, Meavilla, Silvia, Sánchez-Pintos, Paula, de Las Heras Montero, Javier, Blasco-Alonso, Javier, Dougherty, Lucy, Marquez, Ana, Peña-Quintana, Luis, Cañedo, Elvira, García-Jimenez, María Concepción, Moreno Lozano, Pedro Juan, Murray Hurtado, Mercedes, Camprodon Gómez, María, Barrio-Carreras, Delia, de Los Santos, Mariela, Del Toro, Mireia, Couce, María L, Vitoria Miñana, Isidro, Morales Conejo, Montserrat, Bellusci, Marcello
Published in Journal of clinical medicine (28.08.2022)
Published in Journal of clinical medicine (28.08.2022)
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GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Published in Orphanet journal of rare diseases (12.04.2016)
Published in Orphanet journal of rare diseases (12.04.2016)
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Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
Hernández-Ainsa, Carmen, López-Gallardo, Ester, García-Jiménez, María Concepción, Climent-Alcalá, Francisco José, Rodríguez-Vigil, Carmen, García Fernández de Villalta, Marta, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia
Published in Disease models & mechanisms (01.03.2022)
Published in Disease models & mechanisms (01.03.2022)
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Hübschmann, Oya Kuseyri, Juliá‐Palacios, Natalia Alexandra, Olivella, Mireia, Guder, Philipp, Zafeiriou, Dimitrios I., Horvath, Gabriella, Kulhánek, Jan, Pearson, Toni S., Kuster, Alice, Cortès‐Saladelafont, Elisenda, Ibáñez, Salvador, García‐Jiménez, Maria Concepción, Honzík, Tomáš, Santer, René, Jeltsch, Kathrin, Garbade, Sven F., Hoffmann, Georg F., Opladen, Thomas, García‐Cazorla, Ángeles
Published in Annals of neurology (01.08.2022)
Published in Annals of neurology (01.08.2022)
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Postauthorization safety study of betaine anhydrous
Mütze, Ulrike, Gleich, Florian, Garbade, Sven F., Plisson, Céline, Aldámiz‐Echevarría, Luis, Arrieta, Francisco, Ballhausen, Diana, Zielonka, Matthias, Petković Ramadža, Danijela, Baumgartner, Matthias R., Cano, Aline, García Jiménez, María Concepción, Dionisi‐Vici, Carlo, Ješina, Pavel, Blom, Henk J., Couce, Maria Luz, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Morris, Andrew A. M., Mundy, Helen, Redonnet‐Vernhet, Isabelle, Santra, Saikat, Schiff, Manuel, Servais, Aude, Vitoria, Isidro, Huemer, Martina, Kožich, Viktor, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Diffuse leukoencephalopathy due to congenital infection by cytomegalovirus
López-Pisón, Javier, Monge-Galindo, Lorena, Lafuente-Hidalgo, Miguel, Pérez-Delgado, Raquel, García-Jimenez, María Concepción, Martínez-Sapiñá, Ana, Peña-Segura, José Luis
Published in Revista de neurologiá (16.02.2010)
Published in Revista de neurologiá (16.02.2010)
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A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit
Ochoa-Gómez, Laura, López-Pisón, Javier, Lapresta Moros, Carlos, Fuertes Rodrigo, Cristina, Fernando Martínez, Ruth, Samper-Villagrasa, Pilar, Monge-Galindo, Lorena, Peña-Segura, José Luis, García-Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2017)
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Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática
Marín Andrés, Marta, Ros Arnal, Ignacio, Cebolla Sanz, Jorge Javier, Pérez Delgado, Raquel, García Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2021)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2021)
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Clinical impact of translocation t(7;15) (p22;q26) on several family members
Caballero Pérez, Victoria, López-Pisón, Francisco Javier, Miramar Gallart, María Dolores, González Álvarez, Alejandro, García Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
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Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Leucoencefalopatía difusa por infección congénita por citomegalovirus
López Pisón, Javier, Monge Galindo, Lorena, Lafuente Hidalgo, Miguel, Pérez Delgado, Raquel, García Jiménez, María Concepción, Martínez Sapiñá, Ana, Peña Segura, José Luis
Published in Revista de neurologiá (16.02.2010)
Published in Revista de neurologiá (16.02.2010)
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Characterisation of plasma lipoprotein particles in spanish patients with lysosomal acid lipase deficiency (LAL-D)
Rodríguez-García, Enrique, Gil-Serret, Miriam, García-Jiménez, María Concepción, González-Diéguez, María Luisa, Del Valle Loarte, Pablo, Barba-Romero, Miguel Angel, Gil-Ortega, David, Bernal-López, Rosa, Amigó, Nuria, Yahyaoui, Raquel
Published in Atherosclerosis (01.08.2017)
Published in Atherosclerosis (01.08.2017)
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Epilepsia y errores congénitos del metabolismo
Moya López, Sara, Ruiz Colodrero, Alejandra, Sainz García, Javier, Fariña Jara, Violeta, García Jiménez, María Concepción, Castejón Ponce, Esperanza, López Pisón, Javier, Pérez Delgado, Raquel
Published in Revista de neurologiá (2024)
Published in Revista de neurologiá (2024)
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Encefalopatía, fallo renal y retinopatía. Déficit de CoQ10 por mutación de COQ8B
Adán Lanceta, Víctor, Romero Salas, Yolanda, Justa Roldán, María Luisa, García Jiménez, María Concepción, Ariceta Iraola, Gema
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2021)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2021)
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Clinical impact of translocation t(7;15) (p22;q26) on several family members
Caballero Pérez, Victoria, López-Pisón, Francisco Javier, Miramar Gallart, María Dolores, González Álvarez, Alejandro, García Jiménez, María Concepción
Published in Anales de Pediatría (01.08.2017)
Published in Anales de Pediatría (01.08.2017)
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