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The potential of dietary treatment in patients with glycogen storage disease type IV.
Derks TGJ, Peeks F, de Boer F, Fokkert-Wilts M, van der Doef HPJ, van den Heuvel MC, Szymańska E, Rokicki D, Ryan PT, Weinstein DA. Derks TGJ, et al. J Inherit Metab Dis. 2021 May;44(3):693-704. doi: 10.1002/jimd.12339. Epub 2020 Dec 21. J Inherit Metab Dis. 2021. PMID: 33332610 Free PMC article.
In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess the outcomes of medical diets, which limit the accumulation of glycogen. ...
In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess …
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency seconda …
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly …
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
Shen J, Liu HM, McConkie-Rosell A, Chen YT. Shen J, et al. Prenat Diagn. 1999 Sep;19(9):837-9. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. Prenat Diagn. 1999. PMID: 10521841
Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, …
Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinic …
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Magoulas PL, et al. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Hum Pathol. 2012. PMID: 22305237 Review.
Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heterozygotes for null and missense mutations. Although the extensive reticuloendothelial system involvement that was observed in our patien …
Individuals with the classic hepatic form of glycogen storage disease type IV tend to be compound heteroz …
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.
Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM, Mickelson JR. Ward TL, et al. Mamm Genome. 2004 Jul;15(7):570-7. doi: 10.1007/s00335-004-2369-1. Mamm Genome. 2004. PMID: 15366377
The previous findings of poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are all consistent with the non …
The previous findings of poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunod …
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Raju GP, Li HC, Bali DS, Chen YT, Urion DK, Lidov HG, Kang PB. Raju GP, et al. J Child Neurol. 2008 Mar;23(3):349-52. doi: 10.1177/0883073807309248. Epub 2008 Jan 29. J Child Neurol. 2008. PMID: 18230843
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. ...Genetic analysis de …
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficie …
Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
Brown BI, Brown DH. Brown BI, et al. Am J Hum Genet. 1989 Mar;44(3):378-81. Am J Hum Genet. 1989. PMID: 2521770 Free PMC article.
In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured from the aborted fetuses, no branching enzyme activity was found. Another fetus, which was predicted by antenatal assay to be affected …
In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured f …
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 …
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
Tümer L, Kasapkara ÇS, Biberoğlu G, Ezgü F, Hasanoğlu A. Tümer L, et al. J Pediatr Endocrinol Metab. 2013;26(11-12):1149-52. doi: 10.1515/jpem-2013-0066. J Pediatr Endocrinol Metab. 2013. PMID: 23813353
Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage …
Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevati …
Ground-glass hepatocytes: light and electron microscopy. Characterization of the different types.
Vázquez JJ. Vázquez JJ. Histol Histopathol. 1990 Jul;5(3):379-86. Histol Histopathol. 1990. PMID: 1966881 Review.
Morphological observations of paraffin-embedded histological sections stained with H&E led to the discovery of some cytoplasmic changes which occur in different conditions, although they look alike under the light microscope. ...Of particular interest are the "inclusio …
Morphological observations of paraffin-embedded histological sections stained with H&E led to the discovery of some cytoplasmic c …
25 results