Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 2
2012 1
2013 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S, Newman WG. Banka S, et al. Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Orphanet J Rare Dis. 2013. PMID: 23758768 Free PMC article. Review.
Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency
Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also ca …
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.
Hauck F, Klein C. Hauck F, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):596-606. doi: 10.1097/ACI.0000000000000014. Curr Opin Allergy Clin Immunol. 2013. PMID: 24145314 Review.
Continuous careful explorations of known entities such as ELANE, GFI1, HAX1, G6PC3 deficiency and XLN help to define principles controlling differentiation and function of neutrophil granulocytes. Furthermore, the identification of novel genetic defects associated w …
Continuous careful explorations of known entities such as ELANE, GFI1, HAX1, G6PC3 deficiency and XLN help to define principle …
Genetic etiologies of severe congenital neutropenia.
Boztug K, Klein C. Boztug K, et al. Curr Opin Pediatr. 2011 Feb;23(1):21-6. doi: 10.1097/MOP.0b013e32834262f8. Curr Opin Pediatr. 2011. PMID: 21206270 Review.
PURPOSE OF REVIEW: To review recent advances in severe congenital neutropenia (SCN) syndromes. RECENT FINDINGS: The majority of patients with SCN bear monoallelic mutations in the neutrophil elastase (ELANE) gene. Biallelic mutations in the antiapoptotic gene …
PURPOSE OF REVIEW: To review recent advances in severe congenital neutropenia (SCN) syndromes. RECENT FINDINGS: The maj …
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
Klein C. Klein C. Annu Rev Immunol. 2011;29:399-413. doi: 10.1146/annurev-immunol-030409-101259. Annu Rev Immunol. 2011. PMID: 21219176 Review.
The discovery of genetic defects causing congenital neutropenia has illuminated mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes. Deficiency of the mitochondrial proteins HAX1 and AK2 cause premature apoptosis of myeloid progenitor …
The discovery of genetic defects causing congenital neutropenia has illuminated mechanisms controlling differentiation, circulation, and dec …