Marco Trinchera - Dissemin

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All papers authored by Marco Trinchera

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2022 Michele Dei Cas

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, Gabriella Roda

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, Sergio Pablo Sardi

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, Alessio di Fonzo

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, Marco Trinchera

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A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate

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2019 Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, Anna Cereda, Daniela Mamoli, Lidia Pezzani, Maria Iascone

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, Fabio dall’Olio

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, Marco Trinchera

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A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9

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Rossella Indellicato, Rossella Parini, Ruben Domenighini, Nadia Malagolini, Maria Iascone

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, Serena Gasperini, Nicoletta Masera, Fabio dall’Olio, Marco Trinchera

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Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation

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