Publication
Title
Imerslund-Gräsbeck syndrome : a comprehensive review of reported cases
Author
Abstract
Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.
Language
English
Source (journal)
Orphanet journal of rare diseases. - London
Publication
London : Bmc , 2023
ISSN
1750-1172
DOI
10.1186/S13023-023-02889-X
Volume/pages
18 :1 (2023) , p. 1-10
Article Reference
291
ISI
001065541700002
Pubmed ID
37710296
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 02.10.2023
Last edited 25.04.2024
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