Works by Martín‐Hernández, Elena

Results: 28

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

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

Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome.

Published in:

2018

By:

Martín-Hernández, Elena;
Martínez-Azorín, Francisco

Publication type:

Letter to the Editor

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

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508

By:

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

Publication type:

Article

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.

Published in:

Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-019-1165-3

By:

Rodríguez-García, María Elena;
Cotrina-Vinagre, Francisco Javier;
Arranz-Canales, Elena;
de Aragón, Ana Martínez;
Hernández-Sánchez, Laura;
Rodríguez-Fornés, Fátima;
Carnicero-Rodríguez, Patricia;
Morales-Conejo, Montserrat;
Martín-Hernández, Elena;
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

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

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.

Published in:

Frontiers in Nutrition, 2024, p. 1, doi. 10.3389/fnut.2024.1416466

By:

Martín-Rivada, Álvaro;
Murray Hurtado, Mercedes;
Martín-Hernández, Elena

Publication type:

Article

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.

Published in:

Frontiers in Nutrition, 2024, p. 1, doi. 10.3389/fnut.2024.1416466

By:

Martín-Rivada, Álvaro;
Hurtado, Mercedes Murray;
Martín-Hernández, Elena

Publication type:

Article

Renal pathology in children with mitochondrial diseases.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 9, p. 1299, doi. 10.1007/s00467-005-1948-z

By:

Martín-Hernández, Elena;
García-Silva, M. Teresa;
Vara, Julia;
Campos, Yolanda;
Cabello, Ana;
Muley, Rafael;
del Hoyo, Pilar;
Martín, Miguel Angel;
Arenas, Joaquín

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

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x

By:

Navarro‐Sastre, Aleix;
García‐Silva, Maria Teresa;
Martín‐Hernández, Elena;
Lluch, Montserrat;
Briones, Paz;
Ribes, Antonia

Publication type:

Article

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Published in:

Nutrients, 2025, v. 17, n. 7, p. 1173, doi. 10.3390/nu17071173

By:

Martín-Hernández, Elena;
Bellusci, Marcello;
Pérez-Mohand, Patricia;
Correcher Medina, Patricia;
Blasco-Alonso, Javier;
Morais-López, Ana;
de las Heras, Javier;
Meavilla Olivas, Silvia María;
Dougherty-de Miguel, Lucy;
Couce, Maria Luz;
Villarroya, Elvira Cañedo;
García Jiménez, María Concepción;
Moreno-Lozano, Pedro Juan;
Vives, Inmaculada;
Gil-Campos, Mercedes;
Stanescu, Sinziana;
Ceberio-Hualde, Leticia;
Camprodón, María;
Cortès-Saladelafont, Elisenda;
López-Urdiales, Rafael

Publication type:

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

MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1483, doi. 10.1002/ajmg.a.61560

By:

Rodríguez‐García, María Elena;
Cotrina‐Vinagre, Francisco Javier;
Gómez‐Cano, María de los Ángeles;
Martínez de Aragón, Ana;
Martín‐Hernández, Elena;
Martínez‐Azorín, Francisco

Publication type:

Article

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Published in:

2019

By:

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.

Publication type:

journal article

Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3‐Hydroxyacyl‐coA Dehydrogenase Deficiency.

Published in:

2025

By:

Alonso‐Diaz, Clara;
Escuder‐Vieco, Diana;
Quijada‐Fraile, Pilar;
Barrio‐Carreras, Delia;
Pérez‐Mohand, Patricia;
Martín‐Hernández, Elena;
Pallas‐Alonso, Carmen Rosa;
García‐Lara, Nadia Raquel

Publication type:

Case Study

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

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

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1361, doi. 10.1002/humu.24426

By:

Rodríguez‐García, María Elena;
Cotrina‐Vinagre, Francisco Javier;
Bellusci, Marcello;
Hernández‐Sánchez, Laura;
de Aragón, Ana Martínez;
López‐Laso, Eduardo;
Martín‐Hernández, Elena;
Martínez‐Azorín, Francisco

Publication type:

Article

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

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