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Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X. Zhou Z, et al. Lipids Health Dis. 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. Lipids Health Dis. 2022. PMID: 35042526 Free PMC article. Review.
To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized. METHOD: Literature search was performed. The clinical features and molecular characteristics of Chinese patient …
To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was rev …
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
Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase (PYGL) leading to a defect in the degradation of glycogen. ...Molecular ge …
Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is …
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.
The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment. RECENT FINDINGS: Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as …
The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment. …
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.
Newgard CB, Fletterick RJ, Anderson LA, Lebo RV. Newgard CB, et al. Am J Hum Genet. 1987 Apr;40(4):351-64. Am J Hum Genet. 1987. PMID: 2883891 Free PMC article.
Human liver glycogen phosphorylase deficiency, also known as glycogen storage disease type VI (GSD VI) or Hers disease, is characterized by hepatomegaly and reduced or absent glycogenolytic response to the injection of glucagon. ...One of the fo …
Human liver glycogen phosphorylase deficiency, also known as glycogen storage disease type VI (GSD VI) or …
Effect of clonidine on the height of a child with glycogen storage disease type VI: a 13 year follow-up study.
Asami T, Kikuchi T, Asami K, Uchiyama M. Asami T, et al. Acta Paediatr Jpn. 1996 Oct;38(5):524-8. doi: 10.1111/j.1442-200x.1996.tb03538.x. Acta Paediatr Jpn. 1996. PMID: 8942015
Side effects were not noted during the clonidine therapy. Other clinical and laboratory findings of GSD VI also completely improved during treatment. ...
Side effects were not noted during the clonidine therapy. Other clinical and laboratory findings of GSD VI also completely improved d …
Regional localization of loci on chromosome 14 using somatic cell hybrids.
Billingsley GD, Cox DW, Duncan AM, Goodfellow PJ, Grzeschik KH. Billingsley GD, et al. Cytogenet Cell Genet. 1994;66(1):33-8. doi: 10.1159/000133659. Cytogenet Cell Genet. 1994. PMID: 8275705
The enzyme deficient in glycogen storage disease type VI, liver glycogen phosphorylase (PYGL), has been localized by in situ hybridization to 14q21-->q22, near the q21-->q22 band interface. Four additional genes, chromogranin A (CHGA), myo …
The enzyme deficient in glycogen storage disease type VI, liver glycogen phosphorylase (PYGL), has been l …