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Identification and Characterization of New Variants in [electronic resource] by
- Barbosa-Gouveia, Sofia
- González-Vioque, Emiliano
- Borges, Filipa
- Gutiérrez-Solana, Luis
- Wintjes, Liesbeth
- Kappen, Antonia
- van den Heuvel, Lambert
- Leis, Rosaura
- Rodenburg, Richard
- Couce, María Luz
Publication details: Journal of clinical medicine Aug 2019
In:
Journal of clinical medicine vol. 8
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26.
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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. [electronic resource] by
- Emperador, Sonia
- Bayona-Bafaluy, M Pilar
- Fernández-Marmiesse, Ana
- Pineda, Mercedes
- Felgueroso, Blanca
- López-Gallardo, Ester
- Artuch, Rafael
- Roca, Iria
- Ruiz-Pesini, Eduardo
- Couce, María Luz
- Montoya, Julio
Producer: 20170726
In:
European journal of human genetics : EJHG vol. 25
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27.
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Non-alcoholic fatty liver in hereditary fructose intolerance. [electronic resource] by
- Aldámiz-Echevarría, Luis
- de Las Heras, Javier
- Couce, María Luz
- Alcalde, Carlos
- Vitoria, Isidro
- Bueno, María
- Blasco-Alonso, Javier
- Concepción García, María
- Ruiz, Mónica
- Suárez, Rafael
- Andrade, Fernando
- Villate, Olatz
Producer: 20210813
In:
Clinical nutrition (Edinburgh, Scotland) vol. 39
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28.
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[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
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29.
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Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems. [electronic resource] by
- Álvarez, J Víctor
- Herrero Filgueira, Carolina
- González, Alexandre de la Fuente
- Colón Mejeras, Cristóbal
- Beiras Iglesias, Andrés
- Tomatsu, Shunji
- Blanco Méndez, José
- Luzardo Álvarez, Asteria
- Couce, María Luz
- Otero Espinar, Francisco J
Publication details: Pharmaceutics Oct 2019
In:
Pharmaceutics vol. 11
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30.
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. [electronic resource] by
- Fernández-Marmiesse, Ana
- Morey, Marcos
- Pineda, Merce
- Eiris, Jesús
- Couce, Maria Luz
- Castro-Gago, Manuel
- Fraga, Jose Maria
- Lacerda, Lucia
- Gouveia, Sofia
- Pérez-Poyato, Maria Socorro
- Armstrong, Judith
- Castiñeiras, Daisy
- Cocho, Jose A
Producer: 20141112
In:
Orphanet journal of rare diseases vol. 9
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31.
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Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients. [electronic resource] by
- Goyanes, Alvaro
- Madla, Christine M
- Umerji, Aysha
- Duran Piñeiro, Goretti
- Giraldez Montero, Jose Maria
- Lamas Diaz, María Jesús
- Gonzalez Barcia, Miguel
- Taherali, Farhan
- Sánchez-Pintos, Paula
- Couce, Maria-Luz
- Gaisford, Simon
- Basit, Abdul W
Producer: 20191230
In:
International journal of pharmaceutics vol. 567
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32.
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. [electronic resource] by
- Couce, Maria Luz
- Sánchez-Pintos, Paula
- Diogo, Luisa
- Leão-Teles, Elisa
- Martins, Esmeralda
- Santos, Helena
- Bueno, Maria Amor
- Delgado-Pecellín, Carmen
- Castiñeiras, Daisy E
- Cocho, José A
- García-Villoria, Judit
- Ribes, Antonia
- Fraga, José M
- Rocha, Hugo
Producer: 20140102
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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33.
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. [electronic resource] by
- Couce, María Luz
- Sánchez-Pintos, Paula
- Aldámiz-Echevarría, Luís
- Vitoria, Isidro
- Navas, Victor
- Martín-Hernández, Elena
- García-Volpe, Camila
- Pintos, Guillem
- Peña-Quintana, Luis
- Hernández, Tomás
- Gil, David
- Sánchez-Valverde, Félix
- Bueno, María
- Roca, Iria
- López-Ruzafa, Encarna
- Díaz-Fernández, Carmen
Producer: 20191009
In:
Medicine vol. 98
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34.
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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. [electronic resource] by
- 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-Pombo, Pilar
Producer: 20180220
In:
Human mutation vol. 38
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35.
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Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. [electronic resource] by
- Urreizti, Roser
- Asteggiano, Carla
- Bermudez, Marta
- Córdoba, Alfonso
- Szlago, Marina
- Grosso, Carola
- de Kremer, Raquel Dodelson
- Vilarinho, Laura
- D'Almeida, Vania
- Martínez-Pardo, Mercedes
- Peña-Quintana, Luís
- Dalmau, Jaime
- Bernal, Jaime
- Briceño, Ignacio
- Couce, María Luz
- Rodés, Marga
- Vilaseca, Maria Antonia
- Balcells, Susana
- Grinberg, Daniel
Publication details: Journal of human genetics 04 2007
In:
Journal of human genetics vol. 52
Availability: No items available.
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36.
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. [electronic resource] by
- Urreizti, Roser
- Asteggiano, Carla
- Bermudez, Marta
- Córdoba, Alfonso
- Szlago, Mariana
- Grosso, Carola
- de Kremer, Raquel Dodelson
- Vilarinho, Laura
- D'Almeida, Vania
- Martínez-Pardo, Mercedes
- Peña-Quintana, Luís
- Dalmau, Jaime
- Bernal, Jaime
- Briceño, Ignacio
- Couce, María Luz
- Rodés, Marga
- Vilaseca, Maria Antonia
- Balcells, Susana
- Grinberg, Daniel
Producer: 20060517
In:
Journal of human genetics vol. 51
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37.
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Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism. [electronic resource] by
- Castells, Alba-Aina
- Gueraldi, Daniela
- Balada, Rafel
- Tristán-Noguero, Alba
- Cortès-Saladelafont, Elisenda
- Ramos, Federico
- Meavilla, Silvia
- De Los Santos, Mariela
- Garcia-Volpe, Camila
- Colomé, Roser
- Couce, Maria Luz
- Sierra, Cristina
- Ormazábal, Aida
- Batllori, Marta
- Artuch, Rafael
- Armstrong, Judith
- Alcántara, Soledad
- Garcia-Cazorla, Àngels
Producer: 20201021
In:
Scientific reports vol. 9
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38.
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. [electronic resource] by
- Čechová, Anna
- Altassan, Ruqaiah
- Borgel, Delphine
- Bruneel, Arnaud
- Correia, Joana
- Girard, Muriel
- Harroche, Annie
- Kiec-Wilk, Beata
- Mohnike, Klaus
- Pascreau, Tiffany
- Pawliński, Łukasz
- Radenkovic, Silvia
- Vuillaumier-Barrot, Sandrine
- Aldamiz-Echevarria, Luis
- Couce, Maria Luz
- Martins, Esmeralda G
- Quelhas, Dulce
- Morava, Eva
- de Lonlay, Pascale
- Witters, Peter
- Honzík, Tomáš
Producer: 20210823
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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39.
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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.
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40.
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. [electronic resource] 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
- Del Toro-Riera, Mirella
- García-Jiménez, Inmaculada
- Sierra-Córcoles, Concepción
- Ruiz-Pons, Mónica
- Peña-Quintana, Luis J
- Vives-Piñera, Inmaculada
- Moráis, Ana
- Balmaseda-Serrano, Elena
- Meavilla, Silvia
- Sanjurjo-Crespo, Pablo
- Pérez-Cerdá, Celia
Producer: 20151030
In:
Orphanet journal of rare diseases vol. 9
Availability: No items available.
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