Associated Papers
Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.
Kose H et al.
Frontiers in Immunology, 2026
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N et al.
Scandinavian Journal of Immunology, 2022
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022
Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.
Cetinkaya PG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.
Arikoglu T et al.
European Journal of Haematology, 2015
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Lin SR et al.
Molecular Genetics and Metabolism, 2015
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
Ozgül RK et al.
Journal of Clinical Immunology, 2014
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