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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. ...Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance …
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 …
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
Ito K, Tajima G, Kamisato C, Tsumura M, Iwamoto M, Sekiguchi Y, Numata Y, Watanabe K, Yabe Y, Kanki S, Fujieda Y, Goto K, Sogawa Y, Oitate M, Nagase H, Tsuji S, Nishizawa T, Kakuta M, Masuda T, Onishi Y, Koizumi M, Nakamura H, Okada S, Matsuo M, Takaishi K. Ito K, et al. J Clin Invest. 2023 Dec 1;133(23):e163464. doi: 10.1172/JCI163464. J Clin Invest. 2023. PMID: 37788110 Free PMC article.
Glycogen storage disease type 1a (GSD1a) is caused by a congenital deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha, encoded by G6PC), which is primarily associated with life-threatening hypoglycemia. ...These findings together indicate that thi …
Glycogen storage disease type 1a (GSD1a) is caused by a congenital deficiency of glucose-6-phosphatase-alpha (G6 …
Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.
Derks TG, van Rijn M. Derks TG, et al. J Inherit Metab Dis. 2015 May;38(3):537-43. doi: 10.1007/s10545-015-9811-2. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633903 Free PMC article. Review.
Hepatic glycogen storage diseases (GSD) underscore the intimate relationship between carbohydrate and lipid metabolism. ...In different types of GSD, hyperlipidemias are of a different origin. Hypertriglyceridemia is most prominent in GSD type Ia and a …
Hepatic glycogen storage diseases (GSD) underscore the intimate relationship between carbohydrate and lipid metabolism. ...In …
Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.
Wijaya YOS, Niba ETE, Yabushita R, Bouike Y, Nishio H, Awano H. Wijaya YOS, et al. Kobe J Med Sci. 2021 Nov 2;67(2):E71-E78. Kobe J Med Sci. 2021. PMID: 34795158 Free PMC article.
Glycogen storage disease type Ia (GSDIa, OMIM #232200) is an autosomal recessive metabolic disease characterized by impaired glucose homeostasis and has a long-term complication of hepatocellular adenoma/carcinoma. ...Early treatment of t …
Glycogen storage disease type Ia (GSDIa, OMIM #232200) is an autosomal recessive metabolic disease …
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Matern D, et al. Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. doi: 10.1007/s00431-002-0998-5. Epub 2002 Jul 27. Eur J Pediatr. 2002. PMID: 12373566
Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. ...For the diagnosis of the various forms of glycogen storage dise …
Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the pho …
The dietary treatment of children with type I glycogen storage disease with slow release carbohydrate.
Smit GP, Berger R, Potasnick R, Moses SW, Fernandes J. Smit GP, et al. Pediatr Res. 1984 Sep;18(9):879-81. doi: 10.1203/00006450-198409000-00015. Pediatr Res. 1984. PMID: 6384910
The effect of ingestion of uncooked cornstarch (2 g/kg body weight) in water, uncooked starch (1 g/kg) added to a meal, and glucose (2 g/kg) in water, was studied in eight patients with type IA glycogen storage disease (GSD) and one patient with …
The effect of ingestion of uncooked cornstarch (2 g/kg body weight) in water, uncooked starch (1 g/kg) added to a meal, and glucose (2 g/kg) …
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Angaroni CJ, Giner-Ayala AN, Hill LP, Guelbert NB, Paschini-Capra AE, Dodelson de Kremer R. Angaroni CJ, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532819
Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter-intra variability among the GSD-Ia, GSD-III and GSD-IX patients. In addition, a …
Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen stor …
Acoustic accessibility investigation for ultrasound mediated treatment of glycogen storage disease type Ia patients.
Wang S, Raju BI, Leyvi E, Weinstein DA, Seip R. Wang S, et al. Ultrasound Med Biol. 2011 Sep;37(9):1469-77. doi: 10.1016/j.ultrasmedbio.2011.06.004. Epub 2011 Jul 20. Ultrasound Med Biol. 2011. PMID: 21767906
Glycogen storage disease type Ia (GSDIa) is caused by an inherited defect in the glucose-6-phosphatase gene. ...With sufficiently large acoustic windows and the ability to use glucose to easily assess efficacy, GSD appears to be a good model for …
Glycogen storage disease type Ia (GSDIa) is caused by an inherited defect in the glucose-6-phosphatase ge …
12 results