Results
|
|
1.
|
|
|
|
2.
|
|
|
|
3.
|
|
|
|
4.
|
|
|
|
5.
|
|
|
|
6.
|
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. [electronic resource] by
- Foulquier, François
- Ungar, Daniel
- Reynders, Ellen
- Zeevaert, Renate
- Mills, Philippa
- García-Silva, Maria Teresa
- Briones, Paz
- Winchester, Bryan
- Morelle, Willy
- Krieger, Monty
- Annaert, Willem
- Matthijs, Gert
Producer: 20070828
In:
Human molecular genetics vol. 16
Availability: No items available.
|
|
|
7.
|
|
|
|
8.
|
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. [electronic resource] by
- Perez-Cerda, Celia
- García-Villoria, Judit
- Ofman, Rob
- Sala, Pedro Ruiz
- Merinero, Begoña
- Ramos, Julio
- García-Silva, Maria Teresa
- Beseler, Beatriz
- Dalmau, Jaime
- Wanders, Ronald J A
- Ugarte, Magdalena
- Ribes, Antonia
Producer: 20060119
In:
Pediatric research vol. 58
Availability: No items available.
|
|
|
9.
|
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. [electronic resource] by
- Tort, Frederic
- García-Silva, María Teresa
- Ferrer-Cortès, Xènia
- Navarro-Sastre, Aleix
- Garcia-Villoria, Judith
- Coll, Maria Josep
- Vidal, Enrique
- Jiménez-Almazán, Jorge
- Dopazo, Joaquín
- Briones, Paz
- Elpeleg, Orly
- Ribes, Antonia
Producer: 20140317
In:
Molecular genetics and metabolism vol. 110
Availability: No items available.
|
|
|
10.
|
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. [electronic resource] by
- Couce, María Luz
- Pérez-Cerdá, Celia
- García Silva, María Teresa
- García Cazorla, Angels
- Martín-Hernández, Elena
- Castiñeiras, Daisy
- Pineda, Merçè
- Navarrete, Rosa
- Campistol, Jaume
- Fraga, José María
- Pérez, Belén
- Ugarte, Magdalena
Producer: 20120411
In:
Medicina clinica vol. 137
Availability: No items available.
|
|
|
11.
|
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. [electronic resource] by
- 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
Producer: 20140616
In:
Human mutation vol. 34
Availability: No items available.
|
|
|
12.
|
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. [electronic resource] 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
Producer: 20190521
In:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society vol. 20
Availability: No items available.
|
|
|
13.
|
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. [electronic resource] by
- Martín-Hernández, Elena
- Rodríguez-García, María Elena
- Camacho, Ana
- Matilla-Dueñas, Antoni
- García-Silva, María Teresa
- Quijada-Fraile, Pilar
- Corral-Juan, Marc
- Tejada-Palacios, Pilar
- de Las Heras, Rogelio Simón
- Arenas, Joaquín
- Martín, Miguel A
- Martínez-Azorín, Francisco
Producer: 20180209
In:
Neurogenetics vol. 17
Availability: No items available.
|
|
|
14.
|
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. [electronic resource] by
- Couce, María L
- Aldamiz-Echevarría, Luís
- Bueno, María A
- Barros, Patricia
- Belanger-Quintana, Amaya
- Blasco, Javier
- García-Silva, María-Teresa
- Márquez-Armenteros, Ana M
- Vitoria, Isidro
- Vives, Inmaculada
- Navarrete, Rosa
- Fernández-Marmiesse, Ana
- Pérez, Belén
- Pérez-Cerdá, Celia
Producer: 20170515
In:
Journal of human genetics vol. 62
Availability: No items available.
|
|
|
15.
|
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. [electronic resource] by
- Serrano, Mercedes
- García-Silva, María Teresa
- Martin-Hernandez, Elena
- O'Callaghan, Maria del Mar
- Quijada, Pilar
- Martinez-Aragón, Ana
- Ormazábal, Aida
- Blázquez, Alberto
- Martín, Miguel A
- Briones, Paz
- López-Gallardo, Ester
- Ruiz-Pesini, Eduardo
- Montoya, Julio
- Artuch, Rafael
- Pineda, Mercedes
Producer: 20101123
In:
Mitochondrion vol. 10
Availability: No items available.
|
|
|
16.
|
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. [electronic resource] by
- Tiranti, Valeria
- D'Adamo, Pio
- Briem, Egill
- Ferrari, Gianfrancesco
- Mineri, Rossana
- Lamantea, Eleonora
- Mandel, Hanna
- Balestri, Paolo
- Garcia-Silva, Maria-Teresa
- Vollmer, Brigitte
- Rinaldo, Piero
- Hahn, Si Houn
- Leonard, James
- Rahman, Shamima
- Dionisi-Vici, Carlo
- Garavaglia, Barbara
- Gasparini, Paolo
- Zeviani, Massimo
Producer: 20040406
In:
American journal of human genetics vol. 74
Availability: No items available.
|
|
|
17.
|
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement]. [electronic resource] by
- Pérez-López, Jordi
- Ceberio-Hualde, Leticia
- García Morillo, José Salvador
- Grau-Junyent, Josep M
- Hermida Ameijeiras, Álvaro
- López-Rodríguez, Mónica
- Morales-Conejo, Montserrat
- Nava Mateos, Juan José
- Aldámiz Echevarri Azuara, Luis José
- Campistol, Jaume
- Couce, M Luz
- García-Silva, María Teresa
- González Gutiérrez-Solana, Luis
- Del Toro, Mireia
Producer: 20171122
In:
Medicina clinica vol. 147
Availability: No items available.
|
|
|
18.
|
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. [electronic resource] by
- Tort, Frederic
- Ugarteburu, Olatz
- Texidó, Laura
- Gea-Sorlí, Sabrina
- García-Villoria, Judit
- Ferrer-Cortès, Xènia
- Arias, Ángela
- Matalonga, Leslie
- Gort, Laura
- Ferrer, Isidre
- Guitart-Mampel, Mariona
- Garrabou, Glòria
- Vaz, Frederick M
- Pristoupilova, Ana
- Rodríguez, María Isabel Esteban
- Beltran, Sergi
- Cardellach, Francesc
- Wanders, Ronald Ja
- Fillat, Cristina
- García-Silva, María Teresa
- Ribes, Antonia
Producer: 20200309
In:
Human mutation vol. 40
Availability: No items available.
|
|
|
19.
|
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. [electronic resource] 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
- Pérez, Belén
- Rodríguez-Pombo, Pilar
Publication details: Journal of clinical medicine Nov 2019
In:
Journal of clinical medicine vol. 8
Availability: No items available.
|
|
|
20.
|
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. [electronic resource] by
- Navarrete, Rosa
- Leal, Fátima
- Vega, Ana I
- Morais-López, Ana
- Garcia-Silva, María Teresa
- Martín-Hernández, Elena
- Quijada-Fraile, Pilar
- Bergua, Ana
- Vives, Inmaculada
- García-Jiménez, Inmaculada
- Yahyaoui, Raquel
- Pedrón-Giner, Consuelo
- Belanger-Quintana, Amaya
- Stanescu, Sinziana
- Cañedo, Elvira
- García-Campos, Oscar
- Bueno-Delgado, María
- Delgado-Pecellín, Carmen
- Vitoria, Isidro
- Rausell, María Dolores
- Balmaseda, Elena
- Couce, Mari Luz
- Desviat, Lourdes R
- Merinero, Begoña
- Rodríguez-Pombo, Pilar
- Ugarte, Magdalena
- Pérez-Cerdá, Celia
- Pérez, Belén
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
|