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Author/Creator Indellicato, Rossella

1. A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. (4th October 2019)

Authors:
Indellicato, Rossella; Domenighini, Ruben; Malagolini, Nadia; Cereda, Anna; Mamoli, Daniela; Pezzani, Lidia; Iascone, Maria; dall'Olio, Fabio; Trinchera, Marco
Journal:
Glycobiology
Issue:
Volume 30:Number 2(2020)
Page Start:
95
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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. (7th January 2019)

Authors:
Indellicato, Rossella; Parini, Rossella; Domenighini, Ruben; Malagolini, Nadia; Iascone, Maria; Gasperini, Serena; Masera, Nicoletta; dall'Olio, Fabio; Trinchera, Marco
Journal:
Glycobiology
Issue:
Volume 29:Number 3(2019)
Page Start:
229
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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