New Articles From Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases LETTER TO THE EDITOR Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton and Andrea Vianello Orphanet Journal of Rare Diseases 2019, 14:62 | Published on: 4 March 2019 Full Text | PDF RESEARCH Analysis of LPI-causing mutations on y+LAT1 function and localization Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici and Valeria Dall’Asta Orphanet Journal of Rare Diseases 2019, 14:63 | Published on: 4 March 2019 Full Text | PDF

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