Search

Author/Creator Navarrete, Rosa

1. A Novel Regulatory Defect in the Branched‐Chain α‐Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease. Issue 2 (12th December 2012)

Authors:
Oyarzabal, Alfonso; Martínez‐Pardo, Mercedes; Merinero, Begoña; Navarrete, Rosa; Desviat, Lourdes R; Ugarte, Magdalena; Rodríguez‐Pombo, Pilar
Journal:
Human mutation
Issue:
Volume 34:Issue 2(2013:Feb.)
Page Start:
355
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain. Issue 5 (3rd April 2019)

Authors:
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; Hi...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 5(2019)
Page Start:
615
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option. (25th January 2013)

Authors:
Pérez, Belén; Gutiérrez‐Solana, Luis González; Verdú, Alfonso; Merinero, Begoña; Yuste‐Checa, Patricia; Ruiz‐Sala, Pedro; Calvo, Rocio; Jalan, Anil; Marín, Laura López; Campos, Oscar; Ruiz, Maria Ángeles; Miguel, Marta San; Vázquez, Maria; Castro, Margarita; Ferrer, Isaac; Navarrete, Rosa; Desvia...
Journal:
Epilepsia
Issue:
Volume 54:issue 2(2013:Feb.)
Page Start:
239
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region. Issue 2 (27th January 2022)

Authors:
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; ...
Journal:
JIMD reports
Issue:
Volume 63:Issue 2(2022)
Page Start:
146
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Issue 6 (20th March 2017)

Authors:
Bravo‐Alonso, Irene; Navarrete, Rosa; Arribas‐Carreira, Laura; Perona, Almudena; Abia, David; Couce, María Luz; García‐Cazorla, Angels; Morais, Ana; Domingo, Rosario; Ramos, María Antonia; Swanson, Michael A.; Van Hove, Johan L.K.; Ugarte, Magdalena; Pérez, Belén; Pérez‐Cerdá, Celia; Rodríguez‐Po...
Journal:
Human mutation
Issue:
Volume 38:Issue 6(2017)
Page Start:
678
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Issue 7 (30th April 2020)

Authors:
Gallego, Diana; Leal, Fátima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sanchez‐Lijarcio, Obdulia; Vitoria, Isidro; Bueno‐Delgado, María; Belanger‐Quintana, Amaya; Morais, Ana; Pedrón‐Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo, Vero...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1329
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Issue 4 (5th March 2014)

Authors:
García‐Cazorla, Angels; Oyarzabal, Alfonso; Fort, Joana; Robles, Concepción; Castejón, Esperanza; Ruiz‐Sala, Pedro; Bodoy, Susanna; Merinero, Begoña; Lopez‐Sala, Anna; Dopazo, Joaquín; Nunes, Virginia; Ugarte, Magdalena; Artuch, Rafael; Palacín, Manuel; Rodríguez‐Pombo, Pilar; Alcaide, Patricia; ...
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
470
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗