Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease von 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

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Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing von Brión, María, de Castro López, María José, Santori, Montserrat, Pérez Muñuzuri, Alejandro, López Abel, Bernardo, Baña Souto, Ana María, Martínez Soto, María Isabel, Couce, María Luz

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Knee Dislocation in the Delivery Room von de Castro López, María José, MD, Iglesias Deus, Alicia, MD, Rodriguez Vidal, Adriana, MD, López Suárez, Olalla, MD, Pérez Muñuzuri, Alejandro, MD, PhD, Couce Pico, Maria Luz, MD, PhD

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Cardiac phenotype in Hunter syndrome widening the spectrum von de Castro Lopez, Maria Jose, Abel, Bernardo Lopez, Pintos, Paula Sanchez, Martinez, Maria Jose Brion, Crujeiras, Pablo, Caiola, Daniel, Colon, Cristobal, Couce, Maria Luz

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Treatment with UX111 gene therapy rapidly reduced heparan sulfate (HS) exposure in cerebrospinal fluid (CSF) and improved long-term cognitive function in children with mucopolysacc... von Lau, Heather A., Patra, Kaushik, Wolf, Melissa, Smith, Nicholas J.C., Couce, Maria L., Rajan, Deepa, Truxal, Kristen, Lopez, Maria Jose De Castro, Fuller, Maria, Monteagudo-Vilavedra, Eines, Miguel, Lucia Dunia Dougherty-De, Riera, Mireia Del Toro, Flanigan, Kevin M.

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Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease von Lopez, Maria Jose De Castro, de Frutos, Laura López, Brammeier, Kathryn L., Church, Heather J., Couce, Maria Luz, Jones, Simon, Ghosh, Arunabha

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Individual and health-care system socioeconomic impact of lysosomal disorders in Spain von Morell, Guillem Pintos, Pérez, Eduardo B., Lopez, Maria Jose De Castro, Cruz, Jordi, Gonzalez-Meneses, Antonio, Morales-Conejo, Montserrat, Andrés, José Luis Poveda, Vilalta, Inmaculada, de Paz, Héctor D.

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Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA) von Flanigan, Kevin M., Smith, Nicholas, Couce, Maria Luz, Rajan, Deepa, Truxal, Kristen, McBride, Kim L., de Castro Lopez, Maria Jose, Fuller, Maria, Taylor, John, Del Campo, Ana B., Grachev, Igor, Lau, Heather

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Marklald: Plasma biomarkers as key indicators for monitoring patients with lysosomal acid lipase deficiency treated with sebelipase alfa. Preliminary findings from a multicentre co... von 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.

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ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB) von Muschol, Nicole, Cleary, Maureen, Couce, Maria Luz, Shaywitz, Adam J., Cahan, Heather, Grover, Anita, Maricich, Stephen M., Melton, Andrew, Smith, Lynn, de Castro Lopez, Maria Jose

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Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB) von Okur, Ilyas, Cleary, Maureen, de Castro Lopez, Maria Jose, Harmatz, Paul, Lee, Joy, Lin, Shaun-Pei, Couce, Maria Luz, Muschol, Nicole, Peters, Heidi, Villarreal, Martha Solano, Shaywitz, Adam, Cahan, Heather, Grover, Anita, Maricich, Stephen M., Melton, Andrew, Smith, Lynn, Ezgu, Fatih

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Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB) von Villarreal, Martha Solano, Okur, Ilyas, Cleary, Maureen, de Castro Lopez, Maria Jose, Harmatz, Paul, Lee, Joy, Lin, Shuan-Pei, Couce, Maria Luz, Muschol, Nicole, Peters, Heidi, Shaywitz, Adam J., Cahan, Heather, Grover, Anita, Melton, Andrew, Smith, Lynn, Maricich, Stephen M., Ezgu, Fatih

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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders von Rodríguez-Pombo, Lucía, de Castro-López, María José, Sánchez-Pintos, Paula, Giraldez-Montero, Jose Maria, Januskaite, Patricija, Duran-Piñeiro, Goretti, Dolores Bóveda, M., Alvarez-Lorenzo, Carmen, Basit, Abdul W., Goyanes, Alvaro, Couce, Maria L.

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Read My Lips: Oral Manifestations of Systemic Diseases von de Castro López, María José, MD, Illade Quinteiro, Laura, MD, Martinón Torres, Federico, PhD, Cutrín Prieto, Juan Manuel, MD

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Evaluación y perspectiva de 20 años de cribado neonatal en Galicia: Resultados del programa von Colon Mejeras, Cristobal, Fraga Bermúdez, José María, Alonso Fernández, José Ramón, Castro López, María José de, Bóveda Fontán, María Dolores, Iglesias Rodríguez, Agustin Javier, Sánchez Pintos, Paula, Couce Pico, María Luz, Cocho de Juan, José Ángel, Castiñeiras, Daisy

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A Rare Cause of Neonatal Obstructive Jaundice von de Castro López, María José, Fraga Bermúdez, José María, Couce Pico, Maria Luz

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Caracterización microbiológica de las gastroenteritis agudas virales atendidas en un servicio de pediatría en un área de alta cobertura vacunal frente a rotavirus von García-Magán, Carlos, de Castro-López, María José, Llovo-Taboada, José, Curros-Novo, Carmen, Puente-Puig, Miriam, Sánchez-Fauquier, Alicia, Martinón-Torres, Federico

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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders von Rodríguez-Pombo, Lucía, De Castro-López, María José, Sánchez-Pintos, Paula, Giraldez-Montero, Jose Maria, Januskaite, Patricija, Duran-Piñeiro, Goretti, Dolores Bóveda, M Dolores, Alvarez-Lorenzo, Carmen, Basit, Abdul W, Goyanes, Alvaro, Couce, Maria L

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Optical imaging spectroscopy for rapid, primary screening of SARS-CoV-2: a proof of concept von Gomez-Gonzalez, Emilio, Barriga-Rivera, Alejandro, Fernandez-Muñoz, Beatriz, Navas-Garcia, Jose Manuel, Fernandez-Lizaranzu, Isabel, Munoz-Gonzalez, Francisco Javier, Parrilla-Giraldez, Ruben, Requena-Lancharro, Desiree, Gil-Gamboa, Pedro, Rosell-Valle, Cristina, Gomez-Gonzalez, Carmen, Mayorga-Buiza, Maria Jose, Martin-Lopez, Maria, Muñoz, Olga, Gomez-Martin, Juan Carlos, Relimpio-Lopez, Maria Isabel, Aceituno-Castro, Jesus, Perales-Esteve, Manuel A., Puppo-Moreno, Antonio, Garcia-Cozar, Francisco Jose, Olvera-Collantes, Lucia, Gomez-Diaz, Raquel, de los Santos-Trigo, Silvia, Huguet-Carrasco, Monserrat, Rey, Manuel, Gomez, Emilia, Sanchez-Pernaute, Rosario, Padillo-Ruiz, Javier, Marquez-Rivas, Javier

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Switching between reference adalimumab and biosimilars in chronic immune‐mediated inflammatory diseases: A systematic literature review von García‐Beloso, Nerea, Altabás‐González, Irene, Samartín‐Ucha, Marisol, Gayoso‐Rey, Mónica, De Castro‐Parga, María Luísa, Salgado‐Barreira, Ángel, Cibeira‐Badia, Amelia, Piñeiro‐Corrales, María Guadalupe, González‐Vilas, Daniel, Pego‐Reigosa, Jose María, Martínez‐López de Castro, Noemí

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