Zobrazeno 1 - 10
of 59
pro vyhledávání: '"glycogen storage disease type 1"'
Autor:
Hadil S. Subih, Reem A. Qudah, Sana Janakat, Hanadi Rimawi, Nour Amin Elsahoryi, Linda Alyahya
Publikováno v:
Foods, Vol 13, Iss 7, p 1091 (2024)
Glycogen storage diseases (GSDs) are a group of carbohydrate metabolism disorders, most of which are inherited in autosomal recessive patterns. GSDs are of two types: those that have to do with liver and hypoglycaemia (hepatic GSDs) and those that ar
Externí odkaz:
https://doaj.org/article/8f89ff98f4e64b7284ec8732e2f7d4a0
Akademický článek
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Akademický článek
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Autor:
Alessandra Eva, Paola Marcolongo, Roberta Resaz, Chiara Lavarello, Simonetta Astigiano, Maria Veiga-da-Cunha, Daniela Melis, Federica Raggi, Antonia Assunto, Andrea Petretto, Alessandra Gamberucci, Maria Carla Bosco, Daniela Segalerba, Francesco Trepiccione, Mariavittoria D'Acierno
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100813-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Glycogen Storage Disease type 1b (GSDIb) is a genetic disorder with long term severe complications. Accumulation of the glucose analog 1,5-anhydroglucitol-6-phosphate (1,5AG6P) in neutrophils inhibits the phosphorylation of glucose in these cells, ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a972cc08490cef934144a4ec91b7f7
http://hdl.handle.net/11386/4803796
http://hdl.handle.net/11386/4803796
Autor:
Rajas, Fabienne, Dentin, Renaud, Cannella, Alexane, Silva, Marine, Raffin, Margaux, Levavasseur, Françoise, Gautier-Stein, Amandine, Postic, Catherine, Mithieux, Gilles
Publikováno v:
Molecular Metabolism
Molecular metabolism
Molecular metabolism, 2020, pp.101108. ⟨10.1016/j.molmet.2020.101108⟩
Molecular metabolism, Elsevier, 2020, pp.101108. ⟨10.1016/j.molmet.2020.101108⟩
Molecular metabolism
Molecular metabolism, 2020, pp.101108. ⟨10.1016/j.molmet.2020.101108⟩
Molecular metabolism, Elsevier, 2020, pp.101108. ⟨10.1016/j.molmet.2020.101108⟩
Objective Glucose production in the blood requires the expression of glucose-6 phosphatase (G6Pase), a key enzyme that allows glucose-6 phosphate (G6P) hydrolysis into free glucose and inorganic phosphate. We previously reported that the hepatic supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e5f752d9303b1983bafa918b06f27e95
http://europepmc.org/articles/PMC7691719
http://europepmc.org/articles/PMC7691719
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160020, Published: 30 MAY 2019
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Glycogen storage disease type 1 (GSD1) is an inherited disorder caused by impaired glucose 6-phosphatase activity. This impairment translates into the inhibition of endogenous glucose production and the subsequent accumulation of cellular glucose 6-p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc43b14a4fa7a7ceccede1ad481cb52a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100404&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100404&lng=en&tlng=en
Autor:
Günaydın, Derya
GDH tip 1 hastalarında tıbbi beslenme tedavisi; normogliseminin sağlanması, büyüme gelişmenin normal seyrinde ilerlemesi için kullanılan etkin yöntemlerindendir. Bu çalışma Glikojen Depo Tip 1 tanısı ile takip edilen hastalarda tıbbi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a34ea0d8d498d8623c5f96989601c533
https://acikbilim.yok.gov.tr/handle/20.500.12812/214738
https://acikbilim.yok.gov.tr/handle/20.500.12812/214738
Akademický článek
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Publikováno v:
The Journal of Pediatric Research. 2:7-10
WOS: 000219054200003
Aim: Glycogen storage disease type 1 is characterized with hypertriglyceridemia which does not lead to atherosclerosis. The human intercellular adhesion molecule-1 gene has been shown to be affected in atherosclerosis and po
Aim: Glycogen storage disease type 1 is characterized with hypertriglyceridemia which does not lead to atherosclerosis. The human intercellular adhesion molecule-1 gene has been shown to be affected in atherosclerosis and po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9446e28f01d247f56f3819c6d926be26
https://doi.org/10.4274/jpr.09719
https://doi.org/10.4274/jpr.09719
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening. 4
Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fasting intolerance and lactic acidosis due to the deficiency of glucose-6-phosphatase enzyme. Blood glucose and lactate concentrations from 2 patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::c88b58fd3501bd4b80d2dd03b7263885
https://hdl.handle.net/11370/dda7cb58-fa8e-4405-87b6-4c6ae3d57fea
https://hdl.handle.net/11370/dda7cb58-fa8e-4405-87b6-4c6ae3d57fea