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Journal Articles

Metabolic Abnormalities in G6PC3 Deficient Human Neutrophils Result in Severe Functional Defects

Christopher M. McKinney, MD, Michael A. Ellison, PhD, Natalie Briones, MS, Angelina Baroffio, MS, Julie A. Reisz, PhD, Angelo D'alessandro, PhD, Daniel R. Ambruso, MD
Journal: Blood
Blood (2016) 128 (22): 1024.
https://doi.org/10.1182/blood.V128.22.1024.1024
Published: 2016
Journal Articles

G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis

Jana Diestelhorst, Daniel Kotlarz, Giridharan Appaswamy, PhD, Rita Beier, MD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Jochen Hecht, PhD, Jacek Puchalka, PhD, Alejandro A. Schäffer, PhD, Dietmar Pfeifer, PhD, Ulrich Baumann, MD, Eva-Doreen Pfister, MD, Gudrun Brandes, PhD, Gabriella Palla, MD, Roland Jacobs, PhD, Hans H. Kreipe, MD, Stefan Mundlos, MD, Christoph Klein, MD, PhD
Journal: Blood
Blood (2011) 118 (21): 2170.
https://doi.org/10.1182/blood.V118.21.2170.2170
Published: 2011
Journal Articles

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, Alejandro A Schäffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanne-Chantelot, Nima Rezaei, Kirsten Mönkemöller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy-Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte, Christoph Klein
Journal: Blood
Blood (2008) 112 (11): 5.
https://doi.org/10.1182/blood.V112.11.5.5
Published: 2008