A Syndrome with Congenital Neutropenia and Mutations inG6PC3-Reference-Cited by-同舟云学术

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A Syndrome with Congenital Neutropenia and Mutations inG6PC3

Published:2009-01 Issue:1 Volume:360 Page:32-43
ISSN:0028-4793
Container-title:New England Journal of Medicine
language:en
Short-container-title:N Engl J Med

Author:

Boztug Kaan,Appaswamy Giridharan,Ashikov Angel,Schäffer Alejandro A.,Salzer Ulrich,Diestelhorst Jana,Germeshausen Manuela,Brandes Gudrun,Lee-Gossler Jacqueline,Noyan Fatih,Gatzke Anna-Katherina,Minkov Milen,Greil Johann,Kratz Christian,Petropoulou Theoni,Pellier Isabelle,Bellanné-Chantelot Christine,Rezaei Nima,Mönkemöller Kirsten,Irani-Hakimeh Noha,Bakker Hans,Gerardy-Schahn Rita,Zeidler Cornelia,Grimbacher Bodo,Welte Karl,Klein Christoph

Publisher

Massachusetts Medical Society

Subject

General Medicine

Link

http://www.nejm.org/doi/pdf/10.1056/NEJMoa0805051

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1. A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation;Blood Advances;2024-07-31

2. Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency;2024-07-11

3. The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations;Expert Review of Clinical Immunology;2024-07-02

4. Neutropenia in Childhood—A Narrative Review and Practical Diagnostic Approach;Hematology Reports;2024-06-16

5. Tafazzin regulates neutrophil maturation and inflammatory response;2024-06-05

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