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Page 1
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20.
JIMD Rep. 2019.
PMID: 30569318
Free PMC article.
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
Bendroth-Asmussen L, Aksglaede L, Gernow AB, Lund AM.
Bendroth-Asmussen L, et al.
Int J Gynecol Pathol. 2016 Jan;35(1):38-40. doi: 10.1097/PGP.0000000000000214.
Int J Gynecol Pathol. 2016.
PMID: 26166723
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Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, Pellissier JF.
Fernandez C, et al.
Muscle Nerve. 2010 Feb;41(2):269-71. doi: 10.1002/mus.21499.
Muscle Nerve. 2010.
PMID: 19813197
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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.
Ravenscroft G, et al.
Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.
Neuromuscul Disord. 2013.
PMID: 23218673
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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E, Szymańska S, Truszkowska G, Ciara E, Pronicki M, Shin YS, Podskarbi T, Kępka A, Śpiewak M, Płoski R, Bilińska ZT, Rokicki D.
Szymańska E, et al.
Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19.
Arch Med Sci. 2018.
PMID: 29379554
Free PMC article.
No abstract available.
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