PubMed for id: 343523

Year	Number of Results
2004	1
2008	1
2009	1
2010	2
2011	1
2012	1
2017	1
2019	1
2023	0

1

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC. Li SC, et al. J Child Neurol. 2012 Feb;27(2):204-8. doi: 10.1177/0883073811415107. Epub 2011 Sep 13. J Child Neurol. 2012. PMID: 21917543

2

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

3

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

4

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM. Radhakrishnan P, et al. Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248. Clin Dysmorphol. 2019. PMID: 30303820

5

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG. Preisler N, et al. Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25. Mol Genet Metab. 2017. PMID: 28882528

6

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S. Taratuto AL, et al. Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275. Epub 2010 Sep 15. Neuromuscul Disord. 2010. PMID: 20833045

7

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

8

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

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