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Quoted phrase not found in phrase index: "Glycogen storage disorder due to hepatic glycogen synthase deficiency"
Page 1
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.
Wolfsdorf JI, Holm IA, Weinstein DA. Wolfsdorf JI, et al. Endocrinol Metab Clin North Am. 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. Endocrinol Metab Clin North Am. 1999. PMID: 10609121 Review.
The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradation of glycogen. ...It remains unclear whether these complications of glycogen storage disease can be prevented by …
The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradatio …
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S. Kasapkara ÇS, et al. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317. J Pediatr Endocrinol Metab. 2017. PMID: 28245189
It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. ...It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with gly …
It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. …
Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.
Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ. Taylor KM, et al. PLoS One. 2013;8(2):e56181. doi: 10.1371/journal.pone.0056181. Epub 2013 Feb 14. PLoS One. 2013. PMID: 23457523 Free PMC article.
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidl …
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal …
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M. Lamperti C, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S161-8. doi: 10.1007/s10545-009-1134-8. Epub 2009 Apr 8. J Inherit Metab Dis. 2009. PMID: 19357989
Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4-alpha-glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amyl …
Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to …