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Quoted phrase not found in phrase index: "Glycogen storage disease due to glucose-6-phosphatase deficiency type IA"
Page 1
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver …
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in ca …
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. ...In addition, patients with type Ib have neutropenia, impaired neutrophil function, and …
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity t …
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, g …
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type …
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Fukuda T, et al. J Inherit Metab Dis. 2023 Jul;46(4):618-633. doi: 10.1002/jimd.12610. Epub 2023 Jun 14. J Inherit Metab Dis. 2023. PMID: 37114839
BACKGROUND: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. ...
BACKGROUND: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the gl …
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Muzetti JH, et al. Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34093448 Free PMC article.
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. ...The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease typ …
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. .. …
Pregnancy in women with glycogen storage disease Ia and Ib.
Ferrecchia IA, Guenette G, Potocik EA, Weinstein DA. Ferrecchia IA, et al. J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017. J Perinat Neonatal Nurs. 2014. PMID: 24476649 Review.
Over the past 9 decades since glycogen storage disease (GSD) was described, an almost universally fatal disease has become one where women are living well into adulthood and choosing to bear children. ...As metabolic control has improved, morbidity has …
Over the past 9 decades since glycogen storage disease (GSD) was described, an almost universally fatal disease …
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ. Rossi A, et al. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411. J Clin Endocrinol Metab. 2022. PMID: 35786777 Free PMC article. Clinical Trial.
CONTEXT: Although previous research has shown the benefit of continuous glucose monitoring (CGM) for hepatic glycogen storage diseases (GSDs), current lack of prospectively collected CGM metrics and glycemic targets for CGM-derived outcomes in the hepatic GSD popula …
CONTEXT: Although previous research has shown the benefit of continuous glucose monitoring (CGM) for hepatic glycogen storage …
Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy.
Chou JY, Jun HS, Mansfield BC. Chou JY, et al. Nat Rev Endocrinol. 2010 Dec;6(12):676-88. doi: 10.1038/nrendo.2010.189. Epub 2010 Oct 26. Nat Rev Endocrinol. 2010. PMID: 20975743 Free PMC article. Review.
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-alpha (G6Pase-alpha) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). ...Pa …
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose- …
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review.
Dahlberg KR, Ferrecchia IA, Dambska-Williams M, Resler TE, Ross KM, Butler GL, Kuo CL, Ryan PT, Weinstein DA. Dahlberg KR, et al. J Inherit Metab Dis. 2020 Mar;43(2):269-278. doi: 10.1002/jimd.12160. Epub 2019 Sep 4. J Inherit Metab Dis. 2020. PMID: 31415093
Cornstarch has been the primary treatment for glycogen storage disease type Ia (GSD Ia) for over 35 years. When cornstarch was first described as a treatment, few people survived beyond early childhood. ...Failure to lower the cornstarch …
Cornstarch has been the primary treatment for glycogen storage disease type Ia (GSD Ia) for over 3 …
How many forms of glycogen storage disease type I?
Veiga-da-Cunha M, Gerin I, Van Schaftingen E. Veiga-da-Cunha M, et al. Eur J Pediatr. 2000 May;159(5):314-8. doi: 10.1007/s004310051279. Eur J Pediatr. 2000. PMID: 10834514 Review.
Glucose-6-phosphatase is a multicomponent enzymatic system of the endoplasmic reticulum, which catalyses the terminal steps of gluconeogenesis and glycogenolysis by converting glucose-6-phosphate to glucose and inorganic phosphate. Glycogen storage diseases type …
Glucose-6-phosphatase is a multicomponent enzymatic system of the endoplasmic reticulum, which catalyses the terminal steps of gluconeogenes …
89 results