Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

In this cohort study, the genetic and clinical spectra of GSDIb were broadened, suggesting associations between GSDIb and bowel, growth, and survival outcomes. To date, no previous study reported IBD-associated arthritis.

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Publication Details

Journal
JAMA Network Open
Published
2025-02-26
DOI
https://doi.org/10.1001/jamanetworkopen.2024.61888
Citations
4
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
6.67
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article

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

Lili Liang, Wen-juan Qiu, Ying Xu, Yu Sun et al.
4 citations
JAMA Network Open
Glycogen Storage Diseases and Myoclonus
6.67
article

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

Lili Liang, Wen-juan Qiu, Ying Xu, Yu Sun, Taozi Du, Bing Xiao, Wensong Ge, Ruifang Wang, Chengkai Sun, Yu Xia, Manqing Sun
article en
4 citations

Abstract

In this cohort study, the genetic and clinical spectra of GSDIb were broadened, suggesting associations between GSDIb and bowel, growth, and survival outcomes. To date, no previous study reported IBD-associated arthritis.

JAMA Network OpenVol. 8(2)
Shanghai Jiao Tong University (CN), XinHua Hospital (CN), Ruijin Hospital (CN)
Good health and well-being
Openalex Percentile: Top 4%
Glycogen Storage Diseases and Myoclonus
6.67
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