31589614 33060286 30228975 20058079 26199317 29379554 16528737 22305237 27546458 33141444[uid] - Search Results

Year	Number of Results
2006	1
2010	1
2012	1
2015	1
2016	1
2017	1
2018	2
2019	1
2020	2
2021	2
2024	0

1

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Capalbo A, et al. PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31589614 Free PMC article.

2

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR. Ravenscroft G, et al. J Med Genet. 2021 Sep;58(9):609-618. doi: 10.1136/jmedgenet-2020-106901. Epub 2020 Oct 15. J Med Genet. 2021. PMID: 33060286 Free PMC article.

3

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Iijima H, Iwano R, Tanaka Y, Muroya K, Fukuda T, Sugie H, Kurosawa K, Adachi M. Iijima H, et al. Mol Genet Metab Rep. 2018 Sep 13;17:31-37. doi: 10.1016/j.ymgmr.2018.09.001. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30228975 Free PMC article.

4

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS. Li SC, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5. Epub 2010 Jan 8. J Inherit Metab Dis. 2010. PMID: 20058079

5

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW. Froese DS, et al. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21. Hum Mol Genet. 2015. PMID: 26199317 Free PMC article.

6

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.

7

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

8

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.

9

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB. Malfatti E, et al. Neuromuscul Disord. 2016 Oct;26(10):681-687. doi: 10.1016/j.nmd.2016.07.005. Epub 2016 Jul 25. Neuromuscul Disord. 2016. PMID: 27546458

10

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO, DiMauro S. Souza PVS, et al. J Inherit Metab Dis. 2021 May;44(3):534-543. doi: 10.1002/jimd.12325. Epub 2020 Nov 13. J Inherit Metab Dis. 2021. PMID: 33141444 Review.

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