Zobrazeno 1 - 10 of 1 006 pro vyhledávání: '"GSD Ib"'
2
Akademický článek
A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
Autor: Xu, Qianyun1 (AUTHOR), Tang, Haiyan2 (AUTHOR), Duan, Liping1 (AUTHOR), Zuo, Xiaoxia1 (AUTHOR), Shi, Xiaoliu2 (AUTHOR), Li, Yisha1,3 (AUTHOR), Zhao, Hongjun1 (AUTHOR), Zhang, Huali1,3,4 (AUTHOR) zhanghuali@csu.edu.cn
Publikováno v: Molecular Genetics & Genomic Medicine. Jan2021, Vol. 9 Issue 1, p1-7. 7p.
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3
Akademický článek
A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis
Autor: Qianyun Xu, Haiyan Tang, Liping Duan, Xiaoxia Zuo, Xiaoliu Shi, Yisha Li, Hongjun Zhao, Huali Zhang
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Glycogen storage disease (GSD) type Ib is an autosomal recessive disease caused by defects of glucose‐6‐phosphate transporter (G6PT), encoded by the SLC37A4 gene. To date, over 100 mutations have been revealed in the SLC37A4 g
Externí odkaz: https://doaj.org/article/b97f924fd448428aaf7497a5757333c9
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4
Akademický článek
Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib.
Autor: Guerra F; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia., Gasperini S; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia., Bonanomi S; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia., Crescitelli V; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia., Pretese R; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia., Da Dalt L; Department of Pharmacological and Biomolecular Sciences University of Milan Milan Italy., Norata GD; Department of Pharmacological and Biomolecular Sciences University of Milan Milan Italy., Balzarini M; Pediatric Department ARNAS G. Brotzu Hospital Cagliari Italy., Biondi A; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia.; School of Medicine and Surgery University of Milano-Bicocca Milan Italy., Baragetti A; Department of Pharmacological and Biomolecular Sciences University of Milan Milan Italy., Saettini F; Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italia.
Publikováno v: EJHaem [EJHaem] 2023 Jan 29; Vol. 4 (2), pp. 551-554. Date of Electronic Publication: 2023 Jan 29 (Print Publication: 2023).
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5
Akademický článek
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Autor: Shao, Yong-Xian1 (AUTHOR), Liang, Cui-Li1 (AUTHOR), Su, Ya-Ying1 (AUTHOR), Lin, Yun-Ting1 (AUTHOR), Lu, Zhi-Kun1 (AUTHOR), Lin, Rui-Zhu1 (AUTHOR), Zhou, Zhi-Zi1 (AUTHOR), Zeng, Chun-Hua1 (AUTHOR), Tao, Chun-Yan1 (AUTHOR), Liu, Zong-Cai1 (AUTHOR), Zhang, Wen1 (AUTHOR) zhw2001zhw@163.com, Liu, Li1 (AUTHOR) liliuchina@qq.com
Publikováno v: Orphanet Journal of Rare Diseases. 4/11/2024, Vol. 19 Issue 1, p1-11. 11p.
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6
Akademický článek
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7
Akademický článek
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Autor: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipi
Externí odkaz: https://doaj.org/article/b887478bd1004ab09f7b84997b76b077
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8
Akademický článek
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9
Akademický článek
Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2‐VSIR Axis in Glycogen Storage Disease.
Autor: Lan, Jiaoli1,2 (AUTHOR), Zhang, Yuxin1,3 (AUTHOR), Jin, Cuiyuan4 (AUTHOR), Chen, Huan5 (AUTHOR), Su, Zexiong1 (AUTHOR), Wu, Jiaxing1 (AUTHOR), Ma, Ni1 (AUTHOR), Zhang, Xiaoyan1 (AUTHOR), Lu, Yiyun1 (AUTHOR), Chen, Yongxin1 (AUTHOR), Zeng, Xiaolu1 (AUTHOR), Zhang, Huiqiong1 (AUTHOR), Zheng, Guilang1 (AUTHOR), Sun, Yueyu1 (AUTHOR), Wang, Chun1 (AUTHOR), Hu, Yan1 (AUTHOR), Wang, Yifei1 (AUTHOR), Liu, Yumei1 (AUTHOR), Zeng, Zhaoyang4 (AUTHOR), Shi, Liyun4 (AUTHOR)
Publikováno v: Advanced Science. 8/14/2024, Vol. 11 Issue 30, p1-19. 19p.
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