Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project von Braconi, D., Giustarini, D., Marzocchi, B., Peruzzi, L., Margollicci, M., Rossi, R., Bernardini, G., Millucci, L., Gallagher, J.A., Le Quan Sang, K.-H., Imrich, R., Rovensky, J., Al-Sbou, M., Ranganath, L.R., Santucci, A.

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Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis von Grosso, S., Margollicci, M. A., Bargagli, E., Buccoliero, R., Perrone, A., Galimberti, D., Morgese, G., Balestri, P., Rottoli, P.

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Serum Chitotriosidase Levels in Patients with Allergic and Non-Allergic Asthma von Bargagli, E., Olivieri, C., Margollicci, M., Bennett, D., Luddi, A., Perrone, M., Maggiorelli, C., Prasse, A., Rottoli, P.

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Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene von Diociaiuti, Andrea, Angioni, Adriano, Pisaneschi, Elisa, Margollicci, Maria, Boldrini, Renata, Alesi, Viola, Novelli, Antonio, Zambruno, Giovanna, El Hachem, May

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GM2 gangliosidosis variant B1: Neuroradiological findings von GROSSO, Salvatore, FARNETANI, Maria Angela, BERARDI, Rosario, MARGOLLICCI, Maria, GALLUZZI, Paolo, VIVARELLI, Rossella, MORGESE, Guido, BALESTRI, Paolo

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A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease von Gomez-Lira, Macarena, Perusi, Chiara, Brutti, Nadia, Farnetani, M. Angela, Margollicci, M. Antonietta, Rizzuto, Nicolò, Pignatti, Pier Franco, Salviati, Alessandro

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G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity von Massa, R, Tessa, A, Margollicci, M.A, Romigi, A, Terracciano, C, Carrozzo, R, Bernardi, G, Santorelli, F.M

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Free sialic acid storage disease: a new Italian case von FOIS, A, BALESTRI, P, FARNETANI, M. A, MANCINI, G. M. S, BORGOGNI, P, MARGOLLICCI, M. A, MOLINELLI, M, ALESSANDRINI, C, GERLI, R

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BIOCHEMICAL-DIAGNOSIS OF CANAVAN DISEASE von BARTALINI, G, MARGOLLICCI, M, BALESTRI, P, FARNETANI, MA, CIONI, M, FOIS, A

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Pathogenic Mechanism, Prophylaxis, and Therapy of Symptomatic Acidosis Induced by Acetazolamide von Filippi, Luca, Bagnoli, Franco, Margollicci, Maria, Zammarchi, Enrico, Tronchin, Michele, Rubaltelli, Firmino F.

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Direct transfer in vitro of α-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with α-mannosidosis von MARGOLLICCI, M, BARTALINI, G, BALESTRI, P, FOIS, A

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Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes von Bartalini, G., Margollicci, M. A., Balestri, P., Fois, A.

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Global developmental delay, osteopenia and ectodermal defect: A new syndrome von Zannolli, Raffaella, Buoni, Sabrina, Macucci, Francesca, Santi, Maria M. de, Miracco, Flavia, Pierluigi, Mauro, Mogni, Massimo, Piomboni, Paola, Massafra, Maria R, Galluzzi, Paolo, Livi, Walter, Cuccia, Aldo, Margollicci, Maria A., Pucci, Lucia, Sacco, Palmino, Molinelli, Massimo, Burlina, Alberto B., Swift, James A., Fimiani, Michele, Zappella, Michele, Miracco, Clelia

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Multiple Neuroendocrine Disorder in Salla Disease von Grosso, Salvatore, Berardi, Rosario, Farnetani, Maria Angela, Margollicci, Maria, Mancini, Maria Grazia, Morgese, Guido, Balestri, Paolo

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Unusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations von Bargagli, E., Margollicci, M., Luddi, A., Rottoli, P., Bartalini, G.

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Direct transferin vitro ofα‐d‐mannosidase activity from normal lymphocytes to fibroblasts of a patient withα‐mannosidosis von Margollicci, M., Bartalini, G., Balestri, P., Fois, A.

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VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies von Diodato, Daria, Melchionda, Laura, Haack, Tobias B., Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A., Minczuk, Michal, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele

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Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity von Massa, Roberto, Tessa, Alessandra, Margollicci, Maria, Micheli, Vanna, Romigi, Andrea, Tozzi, Giulia, Terracciano, Chiara, Piemonte, Fiorella, Bernardi, Giorgio, Santorelli, Filippo M

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