Author: "Morales, Montserrat" / Topic: diagnosis - Searchworks@Jio Institute Digital Library Search Results

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Author: Altemir, Arcadi, Bara, Javier, Setó‐Torrent, Núria, Salleras‐Redonnet, Montse, and Morales, Montserrat
Subjects: TELEMEDICINE, DIAGNOSIS, EAR, AORTIC stenosis
Abstract: Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. [Extracted from the article]
Published: 2022
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Author: del Castillo, Francisco J., Muñoz, Gloria, Gandía, Marta, Ciubotariu, Crina, Piris-Villaespesa, Miguel, Gutiérrez-Solana, Luis G., Morales, Montserrat, Torralba, Miguel A., Pijierro, Agustín, González-Meneses, Antonio, Trats, Tatjana, Carrillo-Farga, Joaquín, and Villarrubia, Jesús
Subjects: *DIAGNOSIS, *LYSOSOMES, *GENES
Published: 2020
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