PubMed (Bookshelf cited) for id: 323005

Year	Number of Results
2004	1
2006	1
2012	1
2013	3
2014	2
2015	2
2016	2
2017	1
2018	4
2019	5
2020	1
2021	1
2022	3
2024	0

1

Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.

Inamori KI, Inokuchi JI. Inamori KI, et al. Int J Mol Sci. 2022 May 11;23(10):5368. doi: 10.3390/ijms23105368. Int J Mol Sci. 2022. PMID: 35628171 Free PMC article. Review.

2

Dystonia Due to GM3 Synthase Deficiency.

Wang AS, Kilbane C. Wang AS, et al. Mov Disord Clin Pract. 2022 Jan 5;9(2):236-239. doi: 10.1002/mdc3.13399. eCollection 2022 Feb. Mov Disord Clin Pract. 2022. PMID: 35146061 Free PMC article.

3

Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.

Aoki K, Heaps AD, Strauss KA, Tiemeyer M. Aoki K, et al. Clin Mass Spectrom. 2019 Mar 16;14 Pt B:106-114. doi: 10.1016/j.clinms.2019.03.001. eCollection 2019 Nov. Clin Mass Spectrom. 2019. PMID: 34917767 Free PMC article.

4

GM3 synthase deficiency in non-Amish patients.

Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.

5

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

6

The Biology of Gangliosides.

Schnaar RL. Schnaar RL. Adv Carbohydr Chem Biochem. 2019;76:113-148. doi: 10.1016/bs.accb.2018.09.002. Epub 2018 Oct 23. Adv Carbohydr Chem Biochem. 2019. PMID: 30851743 Review.

7

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927

8

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.

Indellicato R, Parini R, Domenighini R, Malagolini N, Iascone M, Gasperini S, Masera N, dall'Olio F, Trinchera M. Indellicato R, et al. Glycobiology. 2019 Mar 1;29(3):229-241. doi: 10.1093/glycob/cwy112. Glycobiology. 2019. PMID: 30576498

9

Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.

Wang H, Sency V, McJarrow P, Bright A, Huang Q, Cechner K, Szekely J, Brace J, Wang A, Liu D, Rowan A, Wiznitzer M, Zhou A, Xin B. Wang H, et al. JIMD Rep. 2019;45:9-20. doi: 10.1007/8904_2018_134. Epub 2018 Sep 13. JIMD Rep. 2019. PMID: 30209782 Free PMC article.

10

Gordon-Lipkin E, Cohen JS, Srivastava S, Soares BP, Levey E, Fatemi A. Gordon-Lipkin E, et al. J Child Neurol. 2018 Nov;33(13):825-831. doi: 10.1177/0883073818791099. Epub 2018 Sep 5. J Child Neurol. 2018. PMID: 30185102 Free PMC article.

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