Umbilical cord and visceral hemangiomas diagnosed in the neonatal period: A case report and a review of the literature

by Iglesias-Deus, Alicia, Pérez-Muñuzuri, Alejandro, Urisarri, Adela, Bautista-Casasnovas, Adolfo, Couce, Maria-Luz
Published 2016

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

by Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga
Published 2013

Micronutrient in hyperphenylalaninemia

by Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
Published 2015

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

by Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
Published 2016

Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial

by Alshweki, Ayham, Muñuzuri, Alejandro Pérez, Baña, Ana M., de Castro, Ma. José, Andrade, Fernando, Aldamiz-Echevarría, Luís, de Pipaón, Miguel Sáenz, Fraga, José M., Couce, María L.
Published 2015

Recombinant Bile Salt-Stimulated Lipase in Preterm Infant Feeding: A Randomized Phase 3 Study

by Casper, Charlotte, Hascoet, Jean-Michel, Ertl, Tibor, Gadzinowski, Janusz S., Carnielli, Virgilio, Rigo, Jacques, Lapillonne, Alexandre, Couce, María L., Vågerö, Mårten, Palmgren, Ingrid, Timdahl, Kristina, Hernell, Olle
Published 2016

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

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
Published 2013

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

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
Published 2014

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

by Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C., Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam
Published 2016

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

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
Published 2014

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

by Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, Floris, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Bürgi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, Blom, Henk J.
Published 2015