Zobrazeno 1 - 10
of 122
pro vyhledávání: '"glucose‐6‐phosphate transporter"'
Autor:
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 15, Iss 1, Pp 1-7 (2023)
Abstract Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues. The hi
Externí odkaz:
https://doaj.org/article/5c3a8d027fbc4cf9ba800c73837901e7
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
Autor:
Janice Y. Chou, Brian C. Mansfield
Publikováno v:
Frontiers in Molecular Medicine, Vol 3 (2023)
Type I glycogen storage diseases (GSD-I) consist of two major autosomal recessive disorders, GSD-Ia, caused by a reduction of glucose-6-phosphatase-α (G6Pase-α or G6PC) activity and GSD-Ib, caused by a reduction in the glucose-6-phosphate transport
Externí odkaz:
https://doaj.org/article/87473fe601a84b738c42b80b030eac14
Autor:
Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined
Externí odkaz:
https://doaj.org/article/69b9f93813504547987ea42901d7b116
Publikováno v:
Diagnostics, Vol 13, Iss 10, p 1803 (2023)
Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made in the cytosol
Externí odkaz:
https://doaj.org/article/8f930b55bb544eda8fb49f0bd0a72fec
Akademický článek
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Akademický článek
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Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 28-32 (2015)
Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) activity. In a previous 70–90 week-
Externí odkaz:
https://doaj.org/article/b10683e2853e43429f27cfe25940acc7
Autor:
Garbade, Sven F., Ederer, Viviane, Burgard, Peter, Wendel, Udo, Spiekerkoetter, Ute, Haas, Dorothea, Grünert, Sarah C.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::260ef11a304f617bc507e303f50b2266
https://doaj.org/article/69b9f93813504547987ea42901d7b116
https://doaj.org/article/69b9f93813504547987ea42901d7b116
Kniha
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