A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

Marshall S. Horwitz, Kathleen F. Benson, Richard Person et al. · Nature Genetics · 1999 · 461 citations

Life Sciences, Hematology, Molecular Biology +7

A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i>

Kaan Boztuǧ, Giridharan Appaswamy, Angel Ashikov et al. · New England Journal of Medicine · 2008 · 349 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Hyun Sik Jun, Young‐Mock Lee, Yuk Yin Cheung et al. · Blood · 2010 · 94 citations

Life Sciences, Biochemistry, Cell Biology +16

Occurrence of periodic oscillations in the differential blood counts of congenital, idiopathic, and cyclical neutropenic patients before and during treatment with G-CSF

Caroline Haurie, David C. Dale, Michael C. Mackey · Experimental Hematology · 1999 · 86 citations

Medicine, Hematology, Immunology +10

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

David H. McDermott, Suk See De Ravin, Hyun Sik Jun et al. · Blood · 2010 · 85 citations · Full text

Life Sciences, Hematology, Immunology +15