Works by Quijada‐Fraile, Pilar

Results: 19

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Published in:
2017
By:
- Martín-Hernández, Elena;
- García-Silva, María Teresa;
- Quijada-Fraile, Pilar;
- Rodríguez-García, María Elena;
- Rivera, Henry;
- Hernández-Laín, Aurelio;
- Coca-Robinot, David;
- Fernández-Toral, Joaquín;
- Arenas, Joaquín;
- Martín, Miguel A.;
- Martínez-Azorín, Francisco
Publication type:
Case Study
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT- ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox- Gastaut Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 12, p. 1623, doi. 10.1002/humu.22445
By:
- Delmiro, Aitor;
- Rivera, Henry;
- García‐Silva, María Teresa;
- García‐Consuegra, Inés;
- Martín‐Hernández, Elena;
- Quijada‐Fraile, Pilar;
- Las Heras, Rogelio Simón;
- Moreno‐Izquierdo, Ana;
- Martín, Miguel Ángel;
- Arenas, Joaquín;
- Martínez‐Azorín, Francisco
Publication type:
Article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5045, doi. 10.3390/jcm11175045
By:
- 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
Publication type:
Article
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2933, doi. 10.3390/jcm11102933
By:
- 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
Publication type:
Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
By:
- Bravo-Alonso, Irene;
- Navarrete, Rosa;
- Vega, Ana Isabel;
- Ruíz-Sala, Pedro;
- García Silva, María Teresa;
- Martín-Hernández, Elena;
- Quijada-Fraile, Pilar;
- Belanger-Quintana, Amaya;
- Stanescu, Sinziana;
- Bueno, María;
- Vitoria, Isidro;
- Toledo, Laura;
- Couce, María Luz;
- García-Jiménez, Inmaculada;
- Ramos-Ruiz, Ricardo;
- Martín, Miguel Ángel;
- Desviat, Lourdes R.;
- Ugarte, Magdalena;
- Pérez-Cerdá, Celia;
- Merinero, Begoña
Publication type:
Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
By:
- Martín-Rivada, Álvaro;
- Cambra Conejero, Ana;
- Martín-Hernández, Elena;
- Moráis López, Ana;
- Bélanger-Quintana, Amaya;
- Cañedo Villarroya, Elvira;
- Quijada-Fraile, Pilar;
- Bellusci, Marcelo;
- Chumillas Calzada, Silvia;
- Bergua Martínez, Ana;
- Stanescu, Sinziana;
- Martínez-Pardo Casanova, Mercedes;
- Ruíz-Sala, Pedro;
- Ugarte, Magdalena;
- Pérez González, Belén;
- Pedrón-Giner, Consuelo
Publication type:
Article
Tratamiento dietético con fructosa en una niña de 5 años con acidosis D-láctica recurrente.
Published in:
2018
By:
- Travieso-Suárez, Lourdes;
- Quijada Fraile, Pilar;
- Pedrón Giner, Consuelo
Publication type:
journal article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
By:
- 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
Publication type:
Article
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.
Published in:
Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01476-8
By:
- Cotrina-Vinagre, Francisco Javier;
- Rodríguez-García, María Elena;
- Del Pozo-Filíu, Lucía;
- Quijada-Fraile, Pilar;
- Martínez-Azorín, Francisco
Publication type:
Article
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Published in:
Neurogenetics, 2016, v. 17, n. 4, p. 259, doi. 10.1007/s10048-016-0496-y
By:
- Martín-Hernández, Elena;
- Rodríguez-García, María;
- Camacho, Ana;
- Matilla-Dueñas, Antoni;
- García-Silva, María;
- Quijada-Fraile, Pilar;
- Corral-Juan, Marc;
- Tejada-Palacios, Pilar;
- Las Heras, Rogelio;
- Arenas, Joaquín;
- Martín, Miguel;
- Martínez-Azorín, Francisco
Publication type:
Article
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Published in:
Neurogenetics, 2016, v. 17, n. 1, p. 51, doi. 10.1007/s10048-015-0463-z
By:
- Rodríguez-García, María;
- Martín-Hernández, Elena;
- Aragón, Ana;
- García-Silva, María;
- Quijada-Fraile, Pilar;
- Arenas, Joaquín;
- Martín, Miguel;
- Martínez-Azorín, Francisco
Publication type:
Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
By:
- 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
Publication type:
Article
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 551, doi. 10.1186/s13023-014-0217-2
By:
- Quijada-Fraile, Pilar;
- O?Callaghan, MMar;
- Mart?n-Hern?ndez, Elena;
- Montero, Raquel;
- Garcia-Cazorla, ?ngels;
- Mart?nez de Arag?n, Ana;
- Muchart, Jordi;
- M?laga, Ignacio;
- Pardo, Rafael;
- Garc?a-Gonzalez, Pedro;
- Jou, Cristina;
- Montoya, Julio;
- Emperador, Sonia;
- Ruiz-Pesini, Eduardo;
- Arenas, Joaqu?n;
- Martin, Miguel Angel;
- Ormazabal, Aida;
- Pineda, Merc?;
- Garc?a-Silva, Mar?a T.;
- Artuch, Rafael
Publication type:
Article
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
By:
- Martín-Hernández, Elena;
- Aldámiz-Echevarría, Luis;
- Castejón-Ponce, Esperanza;
- Pedrón-Giner, Consuelo;
- Couce, María Luz;
- Serrano-Nieto, Juliana;
- Pintos-Morell, Guillem;
- Bélanger-Quintana, Amaya;
- Martínez-Pardo, Mercedes;
- García-Silva, María Teresa;
- Quijada-Fraile, Pilar;
- Vitoria-Miñana, Isidro;
- Dalmau, Jaime;
- Lama-More, Rosa A;
- Bueno-Delgado, María Amor;
- Toro-Riera, Mirella del;
- García-Jiménez, Inmaculada;
- Sierra-Córcoles, Concepción;
- Ruiz-Pons, Mónica;
- Peña-Quintana, Luis J
Publication type:
Article
Perioperative management of children with urea cycle disorders.
Published in:
Pediatric Anesthesia, 2020, v. 30, n. 7, p. 780, doi. 10.1111/pan.13905
By:
- Del Río, Cristina;
- Martín‐Hernández, Elena;
- Ruiz, Alicia;
- Quijada‐Fraile, Pilar;
- Rubio, Paloma
Publication type:
Article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Published in:
2021
By:
- 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
Publication type:
journal article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Published in:
Nutrients, 2022, v. 14, n. 13, p. 2755, doi. 10.3390/nu14132755
By:
- 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
Publication type:
Article
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
Published in:
BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-195
By:
- Rivera, Henry;
- Martín-Hernández, Elena;
- Delmiro, Aitor;
- García-Silva, María Teresa;
- Quijada-Fraile, Pilar;
- Muley, Rafael;
- Arenas, Joaquín;
- Martín, Miguel A.;
- Martínez-Azorín, Francisco
Publication type:
Article
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
Published in:
2013
By:
- Rivera, Henry;
- Martín-Hernández, Elena;
- Delmiro, Aitor;
- García-Silva, María Teresa;
- Quijada-Fraile, Pilar;
- Muley, Rafael;
- Arenas, Joaquín;
- Martín, Miguel A;
- Martínez-Azorín, Francisco
Publication type:
journal article