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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency by Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes
Published 2022-10-01
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Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders by Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria
Published 2024-03-01
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