Gastrointestinal involvement in Fabry disease. So important, yet often neglected von Politei, J., Thurberg, B.L., Wallace, E., Warnock, D., Serebrinsky, G., Durand, C., Schenone, A.B.

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Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome? von Politei, J., Schenone, A.B., Cabrera, G., Heguilen, R., Szlago, M.

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Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis von Politei, J., Frabasil, J., Durand, C., Di Pietrantonio, S., Fernandez, A., Albertón, V., Velasquez Rivas, D., Barriales-Villa, R., Larrañaga-Moreira, J., Schenone, A.B.

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Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? von Politei, J., Durand, C., Schenone, A.B., Torres, A., Mukdsi, J., Thurberg, B.L.

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Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme von Abdenur, J. E., Chamoles, N. A., Guinle, A. E., Schenone, A. B., Fuertes, A. N. J.

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Multiple acyl-coa-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment von ABDENUR, José E, CHAMOLES, Néstor A, SCHENONE, Andrea B, JORGE, L. I. A, GUINLE, Adolfo, BERNARD, Cristina, LEVANDOVSKIY, Valeriy, FUSTA, Marta, LAVORGNA, Silvana

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Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulationsￂ -ￂ different outcome? von Politei, J, Schenone, AB, Cabrera, G, Heguilen, R, Szlago, M

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Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis von Abdenur, Jose E., Abeling, Nico, Specola, Norma, Jorge, Lia, Schenone, Andrea B., van Cruchten, Arno C., Chamoles, Nestor A.

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Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? von Politei, J, Durand, C, Schenone, A B, Torres, A, Mukdsi, J, Thurberg, B L

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Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders von Molero‐Luis, Marta, Serrano, Mercedes, Ormazábal, Aida, Pérez‐Dueñas, Belén, García‐Cazorla, Àngels, Pons, Roser, Artuch, Rafael, Amartino, Hernan, Arrabal, Luisa, Campistol, Jaume, Casado, Mercedes, Castro, Pedro Castro, Cormand, Bru, Dinopoulos, Argirios, Domingo, Rosario, Duarte, Sofia T, Fernández‐Álvarez, Emilio, Desviat, Lourdes R, Hegde, Anaita, López‐Laso, Eduardo, Montero, Raquel, Ortez, Carlos, Pérez, Belén, Pineda, Mercé, Sierra, Cristina, Szlago, Marina, Schenone, Andrea B., Ruiz, Ángeles, Sequeira, Sílvia, Tondo, Mireia, Yapici, Zuhal, Iniesta, Raquel

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Overview and critical revision of clinical assessment tools in chemotherapy‐induced peripheral neurotoxicity von Park, Susanna B., Alberti, Paola, Kolb, Noah A., Gewandter, Jennifer S., Schenone, Angelo, Argyriou, Andreas A.

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Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe ske... von Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.

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Impact of hypothermia on cardiac performance during targeted temperature management after cardiac arrest von Chen, Kevin, Schenone, Aldo L., Gheyath, Bashaer, Borges, Nyal, Duggal, Abhijit, Popović, Zoran B., Menon, Venu

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Taxane and epothilone‐induced peripheral neurotoxicity: From pathogenesis to treatment von Tamburin, Stefano, Park, Susanna B., Alberti, Paola, Demichelis, Chiara, Schenone, Angelo, Argyriou, Andreas A.

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Constitutively active autophagy in macrophages dampens inflammation through metabolic and post-transcriptional regulation of cytokine production von Xu, Jinjin, Kong, Lingjia, Oliver, Blayne A., Li, Bihua, Creasey, Elizabeth A., Guzman, Gaelen, Schenone, Monica, Carey, Kimberly L., Carr, Steven A., Graham, Daniel B., Deguine, Jacques, Xavier, Ramnik J.

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The dramatic COVID 19 outbreak in Italy is responsible of a huge drop of urological surgical activity: a multicenter observational study von Rocco, Bernardo, Sighinolfi, Maria Chiara, Sandri, Marco, Altieri, Vincenzo, Amenta, Michele, Annino, Filippo, Antonelli, Alessandro, Baio, Raffaele, Bertolo, Riccardo, Bocciardi, AldoMassimo, Borghesi, Marco, Bove, Pierluigi, Bozzini, Giorgio, Brunocilla, Eugenio, Cacciamani, Giovanni, Calori, Alberto, Cafarelli, Angelo, Celia, Antonio, Carbone, Antonio, Cocci, Andrea, Corsaro, Alfio, Costa, Giovanni, Ceruti, Carlo, Cindolo, Luca, Crivellaro, Simone, Dalpiaz, Orietta, D’Agostino, Daniele, Dall’Oglio, Bruno, Dente, Donato, Falabella, Roberto, Falsaperla, Mario, Ferrari, Giovanni, Finocchiaro, Marinella, Flammia, Simone, Gaboardi, Franco, Galfano, Antonio, Gallo, Fabrizio, Gatti, Lorenzo, Greco, Francesco, Khorrami, Sada, Leonardo, Costantino, Marenghi, Carlo, Nucciotti, Roberto, Oderda, Marco, Pagliarulo, Vincenzo, Parma, Paolo, Pastore, Antonio L., Pini, Giovannalberto, Porreca, Angelo, Pucci, Luigi, Schenone, Maurizio, Schiavina, Riccardo, Sciorio, Carmine, Spirito, Lorenzo, Tafuri, Alessandro, Terrone, Carlo, Umari, Paolo, Varca, Virginia, Veneziano, Domenico, Verze, Paolo, Volpe, Alessandro, Micali, Salvatore, Berti, Lorenzo, Zaramella, Stefano, Zegna, Luisa, Bertellini, Elisabetta, Minervini, Andrea

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Tetracyclines Modify Translation by Targeting Key Human rRNA Substructures von Mortison, Jonathan D., Schenone, Monica, Myers, Jacob A., Zhang, Ziyang, Chen, Linfeng, Ciarlo, Christie, Comer, Eamon, Natchiar, S. Kundhavai, Carr, Steven A., Klaholz, Bruno P., Myers, Andrew G.

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A metabolic synthetic lethal strategy with arginine deprivation and chloroquine leads to cell death in ASS1-deficient sarcomas von Bean, Gregory R, Kremer, Jeff C, Prudner, Bethany C, Schenone, Aaron D, Yao, Juo-Chin, Schultze, Matthew B, Chen, David Y, Tanas, Munir R, Adkins, Douglas R, Bomalaski, John, Rubin, Brian P, Michel, Loren S, Van Tine, Brian A

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Abruptio placentae in the baboon ( Papio spp.) von Schenone, M.H, Schlabritz-Loutsevitch, N, Zhang, J, Samson, J.E, Mari, G, Ferry, R.J, Hubbard, G.B, Dick, E.J

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Prevalence of Fabry disease in male dialysis patients: Argentinean screening study von Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.

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