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34 results

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Page 1
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E. Weinstein DA, et al. J Inherit Metab Dis. 2025 Mar;48(2):e70014. doi: 10.1002/jimd.70014. J Inherit Metab Dis. 2025. PMID: 40064185 Free PMC article. Clinical Trial.
Edgar von Gierke (1877-1945) - Eponym of "von Gierke disease" and double victim of National Socialism.
Kaiser S, Sziranyi J, Gross D. Kaiser S, et al. Pathol Res Pract. 2020 Apr;216(4):152696. doi: 10.1016/j.prp.2019.152696. Epub 2019 Oct 22. Pathol Res Pract. 2020. PMID: 31704151
His name is nowadays best known in medicine for discovering the "von Gierke disease" - also classified as "Glycogen storage disease type I" - which he first described in 1929. ...
His name is nowadays best known in medicine for discovering the "von Gierke disease" - also classified as "Glycogen …
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Skakic A, et al. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093. Epub 2017 Dec 11. Clin Genet. 2018. PMID: 28685844
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. ...
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple …
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Massese M, et al. Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6. Orphanet J Rare Dis. 2022. PMID: 35725468 Free PMC article. Review.
MAIN BODY: Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a m …
MAIN BODY: Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distingui …
Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.
Vai S, Falchetti A, Corbetta S, Bianchi ML, Alberio C, Carrara S, Gasperini S, Pretese R, Parisi L, Teti A, Maurizi A. Vai S, et al. Calcif Tissue Int. 2024 Nov;115(5):661-672. doi: 10.1007/s00223-024-01302-4. Epub 2024 Oct 25. Calcif Tissue Int. 2024. PMID: 39453459 Free PMC article.
In this study, we evaluated the clinical bone complications and the cellular responses in 20 patients (aged 14.1 3.4 years) affected by GSD type I. Fragility fractures were reported in 35% of the patients, which were older than unfractured patients. ...Howeve …
In this study, we evaluated the clinical bone complications and the cellular responses in 20 patients (aged 14.1 3.4 years) affected by G …
Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.
Monteillet L, Labrune P, Hochuli M, Do Cao J, Tortereau A, Miliano AC, Ardon-Zitoun C, Duchampt A, Silva M, Verzieux V, Mithieux G, Rajas F. Monteillet L, et al. Hum Mol Genet. 2022 Mar 21;31(6):914-928. doi: 10.1093/hmg/ddab297. Hum Mol Genet. 2022. PMID: 34617103 Free PMC article.
Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. ...
Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) d …
Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
Gul B, Firasat S, Shan T, Tehreem R, Afshan K. Gul B, et al. PLoS One. 2023 Nov 30;18(11):e0288965. doi: 10.1371/journal.pone.0288965. eCollection 2023. PLoS One. 2023. PMID: 38033126 Free PMC article.
Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC). ...
Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabo …
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia.
Gjorgjieva M, Monteillet L, Calderaro J, Mithieux G, Rajas F. Gjorgjieva M, et al. J Inherit Metab Dis. 2018 Nov;41(6):955-963. doi: 10.1007/s10545-018-0207-y. Epub 2018 Jun 4. J Inherit Metab Dis. 2018. PMID: 29869165 Review.
Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. ...
Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase …
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
Kaiser N, Gautschi M, Bosanska L, Meienberg F, Baumgartner MR, Spinas GA, Hochuli M. Kaiser N, et al. Mol Genet Metab. 2019 Apr;126(4):355-361. doi: 10.1016/j.ymgme.2019.02.008. Epub 2019 Feb 28. Mol Genet Metab. 2019. PMID: 30846352
BACKGROUND: Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to evaluate the quality of dietary treatment and glycemic control in a cohort …
BACKGROUND: Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage dise …
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