Testicular failure in a patient with G6PC3 deficiency-Reference-Cited by-同舟云学术

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Testicular failure in a patient with G6PC3 deficiency

Published:2014-05-05 Issue:2 Volume:76 Page:197-201
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Yeshayahu Yonatan,Asaf Roy,Dubnov-Raz Gal,Schiby Ginette,Simon Amos J.,Lev Atar,Somech Raz

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://www.nature.com/articles/pr201464.pdf

Reference18 articles.

1. Klein C . Congenital neutropenia. Hematology Am Soc Hematol Educ Program 2009:344–50.

2. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32–43.

3. Banka S, Newman WG, Ozgül RK, Dursun A . Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A 2010;152A:2609–11.

4. Cullinane AR, Vilboux T, O’Brien K, et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 2011;131:2017–25.

5. Bégin P, Patey N, Mueller P, et al. Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol 2013;33:520–5.

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Severe congenital neutropenia type 4 with early-onset inflammatory bowel disease attributed to a G6PC3 variant (not previously associated with disease): A case report and a literature review;Human Gene;2023-05

2. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature;Endocrine, Metabolic & Immune Disorders - Drug Targets;2021-09

3. Genome-Scale Metabolic Modeling with Protein Expressions of Normal and Cancerous Colorectal Tissues for Oncogene Inference;Metabolites;2019-12-25

4. CDG and immune response: From bedside to bench and back;Journal of Inherited Metabolic Disease;2019-06-25

5. Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations;Italian Journal of Pediatrics;2014-11-14

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