Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital
Carnicer-Cáceres, Clara, Villena-Ortiz, Yolanda, Castillo-Ribelles, Laura, Barquín-del-Pino, Raquel, Camprodon-Gomez, Maria, Felipe-Rucián, Ana, Moreno-Martínez, David, Lucas-del-Pozo, Sara, Hernández-Vara, Jorge, García-Serra, Anna, Tigri-Santiña, Ariadna, Moltó-Abad, Marc, Agraz-Pamplona, Irene, Rodriguez-Palomares, Jose F., Limeres-Freire, Javier, Macaya-Font, Marc, Rodríguez-Sureda, Victor, Miguel, Lucy Dougherty-De, del-Toro-Riera, Mireia, Pintos-Morell, Guillem, Arranz-Amo, Jose Antonio
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Published in Blood cells, molecules, & diseases (01.01.2023)
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Diagnostic strategies for hydrocephalus detection in MPS patients
De Miguel, Lucy Dougherty, Camprodon-Gomez, Maria, Alvarez, Ignacio Delgado, Felipe, Ana, Poca, M.A., Peccorini, Ana Gabriela Lungo, Riera, Mireia Del Toro
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Published in Molecular genetics and metabolism (01.02.2024)
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Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
Esmel-Vilomara, Roger, Dougherty-De Miguel, Lucy, Artigas-Baleri, Alícia, Turón-Viñas, Eulàlia, Cuscó, Ivon, Díaz-Gómez, Asunción, Panadés-De Oliveira, Luisa, Rocamora, Rodrigo, Boronat, Susana
Published in European journal of medical genetics (01.10.2024)
Published in European journal of medical genetics (01.10.2024)
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