Zobrazeno 1 - 10
of 279
pro vyhledávání: '"Glycogen storage disease type Ib"'
Autor:
Andrey N. Surkov, Leyla S. Namazova-Baranova, Anna L. Arakelyan, Evgeny E. Bessonov, Natalia V. Zhurkova
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 3, Pp 162-167 (2024)
Glycogen storage disease type Ib (GSD Ib) is a rare and extremely severe disease included in the group of hereditary carbohydrate metabolism disorders. The condition is caused by pathogenic variants in the SLC37A4 gene leading to glucose metabolic di
Externí odkaz:
https://doaj.org/article/8b4ab6f90c7b4f8b855be3182c18ab2f
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
Autor:
Andrej N. Surkov, Aleksandr A. Baranov, Lejla S. Namazova-Baranova, Anna L. Arakelyan, Evgenij E. Bessonov, Natal’ya V. Zhurkova
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 5, Pp 498-506 (2023)
Glycogen storage disease type Ib (GSD Ib) — is a disease from the group of hereditary metabolic diseases caused by insufficiency of the glucose-6-phosphate transporter (G6PT, SLC37A4), which leads to a violation of both glycogenolysis and gluconeog
Externí odkaz:
https://doaj.org/article/09aa24a9d3be4ff294af0cc2cf96f8ed
Autor:
K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer
Publikováno v:
Molecular Metabolism, Vol 79, Iss , Pp 101838- (2024)
Objective: Carbohydrate Response Element Binding Protein (ChREBP) is a glucose 6-phosphate (G6P)-sensitive transcription factor that acts as a metabolic switch to maintain intracellular glucose and phosphate homeostasis. Hepatic ChREBP is well-known
Externí odkaz:
https://doaj.org/article/f37f0d25836c4216aad4e8546d24bd0e
Autor:
Fabiola Guerra, Serena Gasperini, Sonia Bonanomi, Viola Crescitelli, Roberta Pretese, Lorenzo Da Dalt, Giuseppe Danilo Norata, Marta Balzarini, Andrea Biondi, Andrea Baragetti, Francesco Saettini
Publikováno v:
eJHaem, Vol 4, Iss 2, Pp 551-554 (2023)
Externí odkaz:
https://doaj.org/article/9bc592d8400f4e2d9aab82dcf03e6471
Autor:
Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 252-258 (2023)
Abstract In patients with glycogen storage disease type Ib (GSD Ib), quality of life is severely hampered by neutropenia and neutropenia‐associated symptoms. SGLT2 inhibitors are a new treatment option and have shown improved medical outcomes in mo
Externí odkaz:
https://doaj.org/article/a082732ba9dc4d05970f39a2d3b79499
Akademický článek
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Autor:
Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 303-308 (2022)
Abstract Glycogen storage disease type Ib (GSD Ib) is caused by biallelic variants in SLC37A4. GSD Ib is characterized by hepatomegaly, recurrent hypoglycemia, neutropenia, and neutrophil dysfunction. Only seven pregnancies in four women with GSD Ib
Externí odkaz:
https://doaj.org/article/f39b0e2f7b604f3cb0459b45f113f3c8
Publikováno v:
Archives of Medical Science, Vol 18, Iss 4, Pp 1095-1099 (2022)
Introduction Recently published case reports suggest the benefit of empagliflozin use in subjects with glycogen storage disease Ib (GSD Ib). Material and methods We present the clinical and laboratory data of 2 adult brothers with GSD Ib treated wit
Externí odkaz:
https://doaj.org/article/0c7a5444e7a048e5b8bad1401eb2b808
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to
Externí odkaz:
https://doaj.org/article/94bc67c78c1041c4a315663946ec9e3b