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Glycogen storage disease type VI: clinical course and molecular background.
Aeppli TR, Rymen D, Allegri G, Bode PK, Häberle J. Aeppli TR, et al. Eur J Pediatr. 2020 Mar;179(3):405-413. doi: 10.1007/s00431-019-03499-1. Epub 2019 Nov 26. Eur J Pediatr. 2020. PMID: 31768638
Since there are only about 40 patients described in literature, our knowledge about the course of the disease is limited. In order to evaluate the long-term outcome of patients with GSD-VI, an observational retrospective case study of six patients was performed at the Univ …
Since there are only about 40 patients described in literature, our knowledge about the course of the disease is limited. In order to …
Hepatic glycogen storage disorders: what have we learned in recent years?
Burda P, Hochuli M. Burda P, et al. Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. Curr Opin Clin Nutr Metab Care. 2015. PMID: 26001652 Free article. Review.
Molecular causes underlying neutropenia and neutrophil dysfunction in GSD I have been elucidated. Case series provide new insights into the natural course and outcome of GSD types VI and IX. For GSD III, a high protein/fat diet has been reported to improve (cardio)myopathy …
Molecular causes underlying neutropenia and neutrophil dysfunction in GSD I have been elucidated. Case series provide new insights into the …
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Chang S, et al. Hum Mol Genet. 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865. Hum Mol Genet. 1998. PMID: 9536091
Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver phosphorylase activity. The course of these disorders is generally mild, but definitive diagnosis requires invasive procedures. ...
Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver phosphoryla …
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. Beauchamp NJ, et al. J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21. J Inherit Metab Dis. 2007. PMID: 17705025
The majority of the mutations were missense, resulting in the substitution of highly conserved residues. These could be grouped into those that were predicted to affect substrate binding (p.V456M, p.E673K, p.S675L, p.S675T), pyridoxal phosphate binding (p.R491C, p.K681T), …
The majority of the mutations were missense, resulting in the substitution of highly conserved residues. These could be grouped into those t …
Thermodynamic-based computational profiling of cellular regulatory control in hepatocyte metabolism.
Beard DA, Qian H. Beard DA, et al. Am J Physiol Endocrinol Metab. 2005 Mar;288(3):E633-44. doi: 10.1152/ajpendo.00239.2004. Epub 2004 Oct 26. Am J Physiol Endocrinol Metab. 2005. PMID: 15507536 Free article.
Computational predictions of control sites in glycogenic and glycogenolytic operational modes in the hepatocyte network compare favorably with known regulatory mechanisms. ...The computational methodology introduced here can be generalized to identify downstream targets of …
Computational predictions of control sites in glycogenic and glycogenolytic operational modes in the hepatocyte network compare favor …