SLC37A4‐CDG: Second patient

SLC37A4‐CDG: Second patient

Abstract Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type II (SLC37A4‐CDG). Only one patien...

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Bibliographic Details
Main Authors: Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:JIMD Reports
Subjects:
CDG
G6PT1
glycogen storage disease
glycosylation
hepatopathy
SLC37A4
Online Access:https://doi.org/10.1002/jmd2.12195

Internet

https://doi.org/10.1002/jmd2.12195

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