Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

A Case of Syndromic Neutropenia and Mutation in G6PC3

(2011) Simona Gatti et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Mutations in the G6PC3 gene cause Dursun syndrome

(2010) Siddharth Banka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

(2010) D. H. McDermott et al.   BLOOD

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

(2010) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Digenic mutations in severe congenital neutropenia

(2010) M. Germeshausen et al.   HAEMATOLOGICA

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

(2010) Janice Y. Chou et al.   Nature Reviews Endocrinology

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

(2009) J. I. Arostegui et al.   BLOOD

Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia

(2009) Jun Xia et al.   BRITISH JOURNAL OF HAEMATOLOGY

Genetic Insights into Congenital Neutropenia

(2009) Christoph Klein et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impaired apoptotic cell clearance in CGD due to altered macrophage programming is reversed by phosphatidylserine-dependent production of IL-4

(2008) R. F. Fernandez-Boyanapalli et al.   BLOOD

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

(2008) P. Eberle et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY