Amino Acid Transport Defects in Human Inherited Metabolic Disorders

by Raquel Yahyaoui, Javier Pérez-Frías
Published 2019-12-01

Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns

by Raquel Yahyaoui, Rocío Jiménez-Machado, Juan Pedro López Siguero
Published 2020-01-01

Propuesta de pauta en el cribado neonatal de hipotiroidismo congénito en grandes prematuros

by Raquel Yahyaoui, Rocío Jiménez-Machado, Juan Pedro López Siguero
Published 2020-01-01

Hipertensión pulmonar como forma de inicio del síndrome de disfunción mitocondrial múltiple

by Zaira Cubiles Arillo, Cristina Yun Castilla, José Miguel Ramos Fernández, Raquel Yahyaoui Macías, Antonio Morales Martínez
Published 2021-03-01

Pulmonary hypertension as a sign of onset of multiple mitochondrial dysfunction syndrome

by Zaira Cubiles Arillo, Cristina Yun Castilla, José Miguel Ramos Fernández, Raquel Yahyaoui Macías, Antonio Morales Martínez
Published 2021-03-01

Metabolic Serendipities of Expanded Newborn Screening

by Raquel Yahyaoui, Javier Blasco-Alonso, Montserrat Gonzalo-Marín, Carmen Benito, Juliana Serrano-Nieto, Inmaculada González-Gallego, Pedro Ruiz-Sala, Belén Pérez, Domingo González-Lamuño
Published 2020-08-01

Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks

by Elena Díaz-Santiago, M. Gonzalo Claros, M. Gonzalo Claros, M. Gonzalo Claros, M. Gonzalo Claros, Raquel Yahyaoui, Raquel Yahyaoui, Yolanda de Diego-Otero, Rocío Calvo, Rocío Calvo, Janet Hoenicka, Janet Hoenicka, Francesc Palau, Francesc Palau, Francesc Palau, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea, James R. Perkins, James R. Perkins, James R. Perkins
Published 2021-04-01

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT

by Ilham Sadik, Inmaculada Pérez de Algaba, Rocío Jiménez, Carmen Benito, Javier Blasco-Alonso, Pilar Caro, Víctor M. Navas-López, Javier Pérez-Frías, Estela Pérez, Juliana Serrano, Raquel Yahyaoui
Published 2019-09-01

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

by Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Published 2018-07-01

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O’Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Published 2021-03-01