Search Results - "Ley Martos, Myriam"

A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome by Martos, Myriam Ley, Reyes, María Jesús Salado, Iglesias, Rosario Marín, Moro, Carmen Gutiérrez, Gutiérrez, Manuel Lubián, Pedregosa, Lorena Estepa

“…Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease characterized by iron deposition in the basal ganglia, primarily…”
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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency by Del Caño-Ochoa, Francisco, Ng, Bobby G, Rubio-Del-Campo, Antonio, Mahajan, Sonal, Wilson, Matthew P, Vilar, Marçal, Rymen, Daisy, Sánchez-Pintos, Paula, Kenny, Joanna, Ley Martos, Myriam, Campos, Teresa, Wortmann, Saskia B, Freeze, Hudson H, Ramón-Maiques, Santiago

“…CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological CAD variants cause a developmental and…”
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Variabilidad en la presentación clínica en la enfermedad de Pompe: evolución tras terapia de reemplazo enzimático by Ley Martos, Myriam, Salado Reyes, María Jesús, Espinosa Rosso, Raúl, Solera García, Jesús, Jiménez Jiménez, Luis

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Lipomatous atrial septal hypertrophy associated with adrenocorticotropin hormone administration in an infant with West syndrome by Rodriguez-Gonzalez, Moises, Cascales-Poyatos, Helena M, Castellano-Martinez, Ana, Ley-Martos, Myriam, Perez-Reviriego, Alvaro Antonio

“…We present the rare case of lipomatous atrial septal hypertrophy associated with adrenocorticotropin hormone therapy in an infant with West syndrome,…”
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Pediatric miliary tuberculosis presenting with stroke: contribution to the paper “Tuberculosis of the central nervous system in children” by Sánchez-Códez, María Isabel, Lubián-Gutiérrez, Manuel, Fernández-Bravo, Carmen, Ley-Martos, Myriam

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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report by Ley-Martos, Myriam, Guerrero, Juan M., Lucas-Javato, Marta, Remón-García, Cristina, García-Lozano, J. Raúl, Colón, Cristóbal, Crujeiras, Pablo, Rodrigues, Daniel, Paúl-Sánchez, Pedro, Macher, Hada C.

“…Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis…”
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A New Allelic Variant in the Gene in a Patient with Incomplete HARP Syndrome by Myriam Ley Martos, María Jesús Salado Reyes, Rosario Marín Iglesias, Carmen Gutiérrez Moro, Manuel Lubián Gutiérrez, Lorena Estepa Pedregosa

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Epileptic status, electrical status and super-refractory status in our hospital by Sánchez, Verónica Garcia, Ley martos, Myriam, Mendoza, Ana Estalella, Oliva, Patricia Salazar, Gonzalez, Arturo Hernandez, Campoy, Patricia Rodriguez, Jimenez, Javier

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Recurrent decrease level of consciousness as first manifestation of high grade glioma by Sánchez, Verónica García, Mendoza, Ana Estalella, Martos, Myriam Ley, Otero, Sebastián Quintero, Quiñones, Fernando Rubio, González, Jose Carlos Flores, González, Arturo Hernández, Campoy, Patricia Rodríguez

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Subacute polyneuropathy by pharmacological toxicity by Sánchez, Verónica García, Pedregosa, Lorena Estepa, Martos, Myriam Ley, Cano, Virginia Roldan, González, Estefania Ruiz, Mendoza, Ana Estalella, Barroso Macias, Ana Isabel

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Retrospective study of the tuberculous meningoencephalitis in children in a third level hospital by Sánchez, Verónica García, Oliva, Patricia Salazar, Martos, Myriam Ley, Campoy, Patricia Rodriguez, Flores Gonzalez, Jose Carlos, Otero, Sebastian Quintero, Quiñones, Fernando Rubio, Gonzalez, Arturo Hernandez

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Clinical guidelines for late-onset Pompe disease by Barba-Romero, M A, Barrot, E, Bautista-Lorite, J, Gutierrez-Rivas, E, Illa, I, Jimenez, L M, Ley-Martos, M, Lopez de Munain, A, Pardo, J, Pascual-Pascual, S I, Perez-Lopez, J, Solera, J, Vilchez-Padilla, J J

“…Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a…”
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Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy by Ley-Martos, Myriam, Salado-Reyes, María J, Espinosa-Rosso, Raúl, Solera-García, Jesús, Jiménez-Jiménez, Luis

“…Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with…”
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Infant botulism in Andalusia (Southern Spain) by López-Laso, Eduardo, Roncero-Sánchez-Cano, Inés, Arce-Portillo, Elena, Ley-Martos, Myriam, Aguirre-Rodríguez, Javier, García-Ron, Adrián, Mora-Navarro, David, Méndez-García, Mario, Camino-León, Rafael

“…Abstract Background Infant botulism (IB) is caused by the intestinal colonization by Clostridium botulinum in the first year of life and its subsequent…”
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Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity by Tomás-Vila, Miguel, Menor, Francisco, Ley-Martos, Myriam, Jumillas-Luján, M José, Marco-Hernández, Ana V, Barbero, Pedro

“…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare condition that has only recently been reported. Here we present two new…”
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Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente by Tomás Vila, Miguel, Menor Serrano, Francisco, Ley Martos, Myriam, Chumillas Luján, María José, Marco Hernández, Ana Victoria, Barbero Aguirre, Pedro

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Guía clínica de la enfermedad de Pompe de inicio tardío by Barba Romero, Miguel Ángel, Barrot Cortes, Emilia, Bautista Lorite, Juan, Gutiérrez Rivas, Eduardo, Illa Sendra, Isabel, Jiménez, Luis Miguel, Ley Martos, Myriam, López de Munain Arregui, Adolfo, Pardo Fernández, Julio, Pascual Pascual, Samuel Ignacio, Pérez López, Jordi, Solera, Jesús, Vílchez Padilla, Juan Jesús

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Unidades clínicas de epilepsia by Grupo Andaluz Interdisciplinario Co, NULL, Acilona Echevarría, Valentín J., Acosta Varo, Jesús, Altuzarra Corral, Alberto, Arráez Sánchez, Miguel Ángel, Bauzano Poley, Enrique, Camino León, Rafael, Cañadillas Hidalgo, Francisco M., Carballo Cordero, Manuel, Casado Chocán, José Luis, Castañeda Guerrero, Mario, Fernández Sánchez, Victoria Eugenia, Fornell Forcades, Josefina, Galán Barranco, Juan M., Galdón Castillo, Alberto, García Guijo, Carmen, Ley Martos, Myriam, Lluch Fernández, Mª Dolores, Martínez Parra, Carlos, Mercadé Cerdá, Juan María, Mora Ramírez, María Dolores, Morales Martínez, María Dolores, Moreno Alegre, Vicente, Nieto Barrera, Manuel, Pita Calandre, Elena, Ramos Lizana, Julio, Rodríguez Uranga, Juan Jesús, Roldán Aparicio, Susana, Ros López, Bienvenido, Rubio Esteban, Guillermo, Rufo Campos, Miguel, Sánchez Álvarez, Juan Carlos, Serrano Castro, Pedro Jesús, Villalobos Chávez, Francisco

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