Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O'Callaghan, Maria Del Mar, Del Soto, Alberto Pérez, Del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar
Published in Orphanet journal of rare diseases (03.05.2017)
Published in Orphanet journal of rare diseases (03.05.2017)
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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R, Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Published in Orphanet journal of rare diseases (24.07.2018)
Published in Orphanet journal of rare diseases (24.07.2018)
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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Domínguez‐González, Cristina, Madruga‐Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre‐Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín‐Hernández, Elena, Morealejo‐Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, Álvarez del Vayo, Concepcion, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres‐Torronteras, Javier, Jimenez‐Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
Lopes Abath Neto, Osorio, Medne, Livija, Donkervoort, Sandra, Rodríguez-García, Maria Elena, Bolduc, Véronique, Hu, Ying, Guadagnin, Eleonora, Foley, A Reghan, Brandsema, John F, Glanzman, Allan M, Tennekoon, Gihan I, Santi, Mariarita, Berger, Justin H, Megeney, Lynn A, Komaki, Hirofumi, Inoue, Michio, Cotrina-Vinagre, Francisco Javier, Hernández-Lain, Aurelio, Martin-Hernández, Elena, Williams, Linford, Borell, Sabine, Schorling, David, Lin, Kimberly, Kolokotronis, Konstantinos, Lichter-Konecki, Uta, Kirschner, Janbernd, Nishino, Ichizo, Banwell, Brenda, Martínez-Azorín, Francisco, Burgon, Patrick G, Bönnemann, Carsten G
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Bellusci, Marcello, Hernández‐Sánchez, Laura, Aragón, Ana Martínez, López‐Laso, Eduardo, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Perioperative management of children with urea cycle disorders
Del Río, Cristina, Martín‐Hernández, Elena, Ruiz, Alicia, Quijada‐Fraile, Pilar, Rubio, Paloma
Published in Pediatric anesthesia (01.07.2020)
Published in Pediatric anesthesia (01.07.2020)
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MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Gómez‐Cano, María de los Ángeles, Martínez de Aragón, Ana, Martín‐Hernández, Elena, Martínez‐Azorín, Francisco
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain
Medrano, Celia, Vega, Ana, Navarrete, Rosa, Ecay, M. Jesús, Calvo, Rocío, Pascual, Samuel Ignacio, Ruiz‐Pons, Mónica, Toledo, Laura, García‐Jiménez, Inmaculada, Arroyo, Ignacio, Campo, Andrea, Couce, M. Luz, Domingo‐Jiménez, M. Rosario, García‐Silva, M. Teresa, González‐Gutiérrez‐Solana, Luis, Hierro, Loreto, Martín‐Hernández, Elena, Martínez‐Pardo, Mercedes, Roldán, Susana, Tomás, Miguel, Cabrera, Jose C., Mártinez‐Bugallo, Francisco, Martín‐Viota, Lucía, Vitoria‐Miñana, Isidro, Lefeber, Dirk J., Girós, M. Luisa, Serrano Gimare, Mercedes, Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia
Published in Clinical genetics (01.05.2019)
Published in Clinical genetics (01.05.2019)
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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
Soriano-Sexto, Alejandro, Gallego, Diana, Leal, Fátima, Castejón-Fernández, Natalia, Navarrete, Rosa, Alcaide, Patricia, Couce, María L., Martín-Hernández, Elena, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Yahyaoui, Raquel, Correcher, Patricia, Ugarte, Magdalena, Rodríguez-Pombo, Pilar, Pérez, Belén
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation
Martín-Hernández, Elena, Rodríguez-García, María Elena, Chen, Chun-An, Cotrina-Vinagre, Francisco Javier, Carnicero-Rodríguez, Patricia, Bellusci, Marcello, Schaaf, Christian P, Martínez-Azorín, Francisco
Published in Journal of human genetics (01.04.2018)
Published in Journal of human genetics (01.04.2018)
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
Bélanger-Quintana, Amaya, Arrieta Blanco, Francisco, Barrio-Carreras, Delia, Bergua Martínez, Ana, Cañedo Villarroya, Elvira, García-Silva, María Teresa, Lama More, Rosa, Martín-Hernández, Elena, López, Ana Moráis, Morales-Conejo, Montserrat, Pedrón-Giner, Consuelo, Quijada-Fraile, Pilar, Stanescu, Sinziana, Casanova, Mercedes Martínez-Pardo
Published in Nutrients (02.07.2022)
Published in Nutrients (02.07.2022)
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A, García-Silva, María Teresa, Morales Conejo, Montserrat
Published in Orphanet journal of rare diseases (03.11.2021)
Published in Orphanet journal of rare diseases (03.11.2021)
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Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review
Navarro-Abia, Virginia, Soriano-Ramos, María, Núñez-Enamorado, Noemí, Camacho-Salas, Ana, Martinez-de Aragón, Ana, Martín-Hernández, Elena, Simón-de las Heras, Rogelio
Published in Brain & development (Tokyo. 1979) (01.04.2018)
Published in Brain & development (Tokyo. 1979) (01.04.2018)
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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
Delmiro, Aitor, Rivera, Henry, García-Silva, María Teresa, García-Consuegra, Inés, Martín-Hernández, Elena, Quijada-Fraile, Pilar, de Las Heras, Rogelio Simón, Moreno-Izquierdo, Ana, Martín, Miguel Ángel, Arenas, Joaquín, Martínez-Azorín, Francisco
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
Alcaide, Patricia, Ferrer-López, Isaac, Gutierrez, Leticia, Leal, Fatima, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bellusci, Marcello, Moráis, Ana, Pedrón-Giner, Consuelo, Rausell, Dolores, Correcher, Patricia, Unceta, María, Stanescu, Sinziana, Ugarte, Magdalena, Ruiz-Sala, Pedro, Pérez, Belén
Published in Journal of clinical medicine (23.05.2022)
Published in Journal of clinical medicine (23.05.2022)
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Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients
Pérez-Poyato, María S, Marfa, Mercé Pineda, Abizanda, Isidre Ferrer, Rodriguez-Revenga, Laia, Sánchez, Victoria Cusí, González, María J Martínez, Puñal, Jesús Eiris, Pérez, Alfonso Verdú, González, M Mar García, Bermejo, Antonio Martínez, Hernández, Elena Martín, Rosell, M Josep Coll, Gort, Laura, Milá, Montserrat
Published in Journal of child neurology (01.04.2013)
Published in Journal of child neurology (01.04.2013)
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Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form
Navarro-Sastre, Aleix, Martín-Hernández, Elena, Campos, Yolanda, Quintana, Ester, Medina, Enrique, de las Heras, Rogelio Simón, Lluch, Montserrat, Muñoz, Alberto, Hoyo, Pilar del, Martín, Rebeca, Gort, Laura, Briones, Paz, Ribes, Antonia
Published in Molecular genetics and metabolism (01.06.2008)
Published in Molecular genetics and metabolism (01.06.2008)
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo
Published in JIMD reports (01.03.2022)
Published in JIMD reports (01.03.2022)
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Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing
Navarro-Sastre, Aleix, García-Silva, Maria Teresa, Martín-Hernández, Elena, Lluch, Montserrat, Briones, Paz, Ribes, Antonia
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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