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Spanish consensus on managing pregnancy in women with Gaucher disease
Calderón, Enrique J., Rodríguez-Fernández, Alicia, Calderón-Baturone, Irene, Aporta-Rodríguez, Rafael, del Castillo, Francisco J., García-Díaz, Lutgardo, González-Meneses, Antonio, Hermosín-Ramos, María Lourdes, Yahyaoui, Raquel, Marín-León, Ignacio
Published in Orphanet journal of rare diseases (28.03.2025)
Published in Orphanet journal of rare diseases (28.03.2025)
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Journal Article
Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks
Díaz-Santiago, Elena, Moya-García, Aurelio A., Pérez-García, Jesús, Yahyaoui, Raquel, Orengo, Christine, Pazos, Florencio, Perkins, James R., Ranea, Juan A. G.
Published in Frontiers in pharmacology (22.01.2025)
Published in Frontiers in pharmacology (22.01.2025)
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Journal Article
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
la Marca, Giancarlo, Carling, Rachel. S., Moat, Stuart. J., Yahyaoui, Raquel, Ranieri, Enzo, Bonham, James. R., Schielen, Peter. C. J. I.
Published in International journal of neonatal screening (01.03.2023)
Published in International journal of neonatal screening (01.03.2023)
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Journal Article
Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco
El Janahi, Sara, Filali, Mounir, Boudar, Zakia, Akhattab, Amina, El Jaoudi, Rachid, Al Idrissi, Najib, Dini, Nouzha, Nejjari, Chakib, Yahyaoui, Raquel, Lloyd-Puryear, Michele A., Ghazal, Hassan
Published in International journal of neonatal screening (01.12.2024)
Published in International journal of neonatal screening (01.12.2024)
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Journal Article
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks
Díaz-Santiago, Elena, Claros, M. Gonzalo, Yahyaoui, Raquel, de Diego-Otero, Yolanda, Calvo, Rocío, Hoenicka, Janet, Palau, Francesc, Ranea, Juan A. G., Perkins, James R.
Published in Frontiers in molecular biosciences (19.04.2021)
Published in Frontiers in molecular biosciences (19.04.2021)
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Journal Article
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Published in Orphanet journal of rare diseases (24.07.2018)
Published in Orphanet journal of rare diseases (24.07.2018)
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Journal Article
Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT
Sadik, Ilham, Pérez de Algaba, Inmaculada, Jiménez, Rocío, Benito, Carmen, Blasco-Alonso, Javier, Caro, Pilar, Navas-López, Víctor M., Pérez-Frías, Javier, Pérez, Estela, Serrano, Juliana, Yahyaoui, Raquel
Published in International journal of neonatal screening (03.09.2019)
Published in International journal of neonatal screening (03.09.2019)
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Journal Article
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Yahyaoui, Raquel, Pérez-Frías, Javier
Published in International journal of molecular sciences (23.12.2019)
Published in International journal of molecular sciences (23.12.2019)
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Journal Article
Hipertensión pulmonar como forma de inicio del síndrome de disfunción mitocondrial múltiple
Cubiles Arillo, Zaira, Yun Castilla, Cristina, Ramos Fernández, José Miguel, Yahyaoui Macías, Raquel, Morales Martínez, Antonio
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2021)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2021)
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Journal Article
Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta-Analysis of Individual Participant Data
Rogne, Tormod, Tielemans, Myrte J., Chong, Mary Foong-Fong, Yajnik, Chittaranjan S., Krishnaveni, Ghattu V., Poston, Lucilla, Jaddoe, Vincent W. V., Steegers, Eric A. P., Joshi, Suyog, Chong, Yap-Seng, Godfrey, Keith M., Yap, Fabian, Yahyaoui, Raquel, Thomas, Tinku, Hay, Gry, Hogeveen, Marije, Demir, Ahmet, Saravanan, Ponnusamy, Skovlund, Eva, Martinussen, Marit P., Jacobsen, Geir W., Franco, Oscar H., Bracken, Michael B., Risnes, Kari R.
Published in American journal of epidemiology (01.02.2017)
Published in American journal of epidemiology (01.02.2017)
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Journal Article
Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation
Delgado Pecellín, Isabel, Pérez Ruiz, Estela, Álvarez Ríos, Ana Isabel, Delgado Pecellín, Carmen, Yahyaoui Macías, Raquel, Carrasco Hernández, Laura, Marcos Luque, Irene, Caro Aguilera, Pilar, Moreno Valera, María José, Quintana Gallego, María Esther
Published in Archivos de bronconeumología (English ed.) (01.11.2018)
Published in Archivos de bronconeumología (English ed.) (01.11.2018)
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Journal Article
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Published in International journal of neonatal screening (05.03.2021)
Published in International journal of neonatal screening (05.03.2021)
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Journal Article
FRI0015 EXON 5 DUPLICATION IN ALPL GENE AS THE GENETIC CAUSE OF HYPOPHOSPATASIA IN A 3 YEAR OLD GIRL
González-Roca, Eva, Muñoz-Torres, Manuela, Carrasco, Pilar, González-Meneses, Antonio, Yahyaoui, Raquel, Isanta, Ricard, Mornet, Etienne
Published in Annals of the rheumatic diseases (01.06.2019)
Published in Annals of the rheumatic diseases (01.06.2019)
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Journal Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
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, Veronica, Gil, David, Yahyaoui, Raquel, Desviat, Lourdes R., Ugarte, Magdalena, Martínez, Aurora, Pérez, Belén
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Marklald: Plasma biomarkers as key indicators for monitoring patients with lysosomal acid lipase deficiency treated with sebelipase alfa. Preliminary findings from a multicentre cohort study in Spain
Roca-Esteve, Sonia, Gonzalo, Irene Serrano, Montero, Javier Adolfo De Las Heras, Bernabeu, Jesus Quintero, Mercadal-Hally, Maria, Almohalla, Carolina, Balmaseda, Elena, Blasco-Alonso, Javier, Martínez, Marta Casañas, Lopez, Maria Jose De Castro, Madurga, Laura Escartín, Gutiérrez Carrasquilla, Liliana P., Berto, Tomas Hernández, Ibarretxe, Daiana, Blázquez, Cristina Iglesias, Martinez-Triguero, Maria Luisa, Mohand, Patricia Pérez, Gil, Nuria P., Ramos, Andrea S., Yahyaoui, Raquel, de Frutos, Laura López, Giraldo, Pilar, Cebolla, Jorge J.
Published in Molecular genetics and metabolism (01.02.2025)
Published in Molecular genetics and metabolism (01.02.2025)
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Journal Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
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
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
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Journal Article
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
de las Heras, Javier, Almohalla, Carolina, Blasco-Alonso, Javier, Bourbon, Mafalda, Couce, Maria-Luz, de Castro López, María José, García Jiménez, Mª Concepción, Gil Ortega, David, González-Diéguez, Luisa, Meavilla, Silvia, Moreno-Álvarez, Ana, Pastor-Rosado, José, Sánchez-Pintos, Paula, Serrano-Gonzalo, Irene, López, Eduardo, Valdivielso, Pedro, Yahyaoui, Raquel, Quintero, Jesús
Published in Nutrients (01.12.2024)
Published in Nutrients (01.12.2024)
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Journal Article
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels
del Castillo, Francisco J., Muñoz, Gloria, Gandía, Marta, Ciubotariu, Crina, García-Seisdedos, David, Piris-Villaespesa, Miguel, Domínguez-Ruiz, María, Calderón, Enrique, González-Meneses, Antonio, López-Jiménez, Javier, Macher, Hada, Morado, Marta, Gutiérrez-Solana, Luis G., Vitoria, Isidro, Unceta, María, Ceberio, Leticia, Yahyaoui, Raquel, Torralba, Miguel A., Fdil, Naima, Carrillo-Farga, Joaquín, Belanger, Amaya, Villarrubia, Jesús
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article