PubMed for id: 863391

Year	Number of Results
1997	1
2007	3
2008	2
2009	3
2010	3
2011	6
2012	5
2013	9
2014	11
2015	6
2016	4
2017	3
2018	4
2019	4
2020	6
2021	3
2022	6
2024	0

1

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.

López-Rodríguez L, Svyryd Y, Benítez-Alonso EO, Rivero-García P, Luna-Muñoz L, Mutchinick OM. López-Rodríguez L, et al. Rev Invest Clin. 2022;74(6):328-339. doi: 10.24875/RIC.22000234. Rev Invest Clin. 2022. PMID: 36546889 Free article.

2

Genetics of severe congenital neutropenia as a gateway to personalized therapy.

Donadieu J, Bellanné-Chantelot C. Donadieu J, et al. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):658-665. doi: 10.1182/hematology.2022000392. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485107 Free PMC article.

3

[Congenital neutropenia type IV: case report].

Peruffo MV, Nainsztein G, Salvaneschi Quiña V, Samaruga C, Cuello MF, Romano S, Caferri H. Peruffo MV, et al. Arch Argent Pediatr. 2022 Oct;120(5):e213-e217. doi: 10.5546/aap.2022.e213. Epub 2022 Aug 30. Arch Argent Pediatr. 2022. PMID: 36190223 Free article. Spanish.

4

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Yacobovich J, Rabinowicz R, Goldberg T, Kuperman AA, Abu-Quider A, Miskin H, Kapelushnik N, Mandel-Shorer N, Shimony S, Harlev D, Ben-Ami T, Adam E, Levin C, Aviner S, Elhasid R, Berger-Achituv S, Chaitman-Yerushalmi L, Kodman Y, Oniashvilli N, Hameiri-Grosman M, Izraeli S, Tamary H, Steinberg-Shemer O. Gilad O, et al. Haematologica. 2022 Sep 1;107(9):2081-2095. doi: 10.3324/haematol.2021.280116. Haematologica. 2022. PMID: 35295078 Free PMC article.

5

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, Partida-Gaytan A, Scheffler-Mendoza SC, Chaia Semerena GM, Alvarez-Cardona A, Suárez Gutiérrez MA, Medina Torres EA, Baeza Capetillo P, Hirschmugl T, Garncarz W, Espinosa-Padilla SE, Aguirre Hernández J, Klein C, Boztug K, Lugo Reyes SO. Velez-Tirado N, et al. Scand J Immunol. 2022 Apr;95(4):e13136. doi: 10.1111/sji.13136. Epub 2022 Jan 19. Scand J Immunol. 2022. PMID: 34964150 Free article.

6

Reduced ELANE and SLPI expression compromises dental pulp cell activity.

Sriwattanapong K, Sa-Ard-Iam N, Boonprakong L, Subbalekha K, Trachoo V, Suratannon N, Porntaveetus T, Shotelersuk V. Sriwattanapong K, et al. Cell Prolif. 2021 Nov;54(11):e13132. doi: 10.1111/cpr.13132. Epub 2021 Sep 27. Cell Prolif. 2021. PMID: 34580954 Free PMC article.

7

Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.

Dai R, Lv G, Li W, Tang W, Chen J, Liu Q, Yang L, Zhang M, Tian Z, Zhou L, Yan X, Wang Y, Ding Y, An Y, Zhang Z, Tang X, Zhao X. Dai R, et al. Front Immunol. 2021 Jul 8;12:699743. doi: 10.3389/fimmu.2021.699743. eCollection 2021. Front Immunol. 2021. PMID: 34305938 Free PMC article.

8

Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.

Yildirmak ZY, Ozcelik G, Ozagari AA, Genc DB, Onay H. Yildirmak ZY, et al. J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e431-e433. doi: 10.1097/MPH.0000000000002237. J Pediatr Hematol Oncol. 2022. PMID: 34224517

9

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.

Maroufi SF, Shaka Z, Mojtabavi H, Sadeghalvad M, Rayzan E, Sedighi I, Shahkarami S, Najafi M, Rohlfs M, Klein C, Rezaei N. Maroufi SF, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668. doi: 10.2174/1871530321666210616110631. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 34137364 Review.

10

Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.

McKinney C, Ellison M, Briones NJ, Baroffio A, Murphy J, Tran AD, Reisz JA, D'Alessandro A, Ambruso DR. McKinney C, et al. Blood Adv. 2020 Dec 8;4(23):5888-5901. doi: 10.1182/bloodadvances.2020002225. Blood Adv. 2020. PMID: 33259599 Free PMC article.

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