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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F. dall’Olio | R. Parini | M. Iascone | M. Trinchera | S. Gasperini | N. Masera | N. Malagolini | Rossella Indellicato | R. Domenighini