Associated Papers
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Yeshareem L et al.
European Journal of Haematology, 2024
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
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.
Dai R et al.
Frontiers in Immunology, 2021
Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.
McKinney C et al.
Blood Advances, 2020
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
Hoffmann D et al.
Gene Therapy, 2020
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A et al.
Pediatric Blood & Cancer, 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
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
Desplantes C et al.
Orphanet Journal of Rare Diseases, 2014
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S et al.
Orphanet Journal of Rare Diseases, 2013
Multiple roles of glucose-6-phosphatases in pathophysiology: state of the art and future trends.
Marcolongo P et al.
Biochimica Et Biophysica Acta, 2013
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S et al.
Molecular Genetics and Metabolism, 2013
Neutropenia in primary immunodeficiency.
Sokolic R
Current Opinion in Hematology, 2013
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K et al.
The Journal of Pediatrics, 2012
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B et al.
Glycobiology, 2011
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
Banka S et al.
European Journal of Human Genetics : Ejhg, 2011
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.
Chou JY et al.
Nature Reviews. Endocrinology, 2010
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
McDermott DH et al.
Blood, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K et al.
The New England Journal of Medicine, 2009