Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids
L
Linda Montavoci
M
Michele Dei Cas
G
Gerarda Cappuccio
M
Maria Antonietta De Matteis
N
Nicola Brunetti-Pierri
A
Anna Caretti
M
Marco Trinchera
Article Details
Journal
Journal of Biological Chemistry
Volume / Issue
Vol. 301, Issue 5
Published
May 01, 2025
Pages
109330
ISSN
0021-9258
Publisher
Elsevier BV
Authors (7)
L
Linda Montavoci
M
Michele Dei Cas
G
Gerarda Cappuccio
M
Maria Antonietta De Matteis
N
Nicola Brunetti-Pierri
A
Anna Caretti
M
Marco Trinchera
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