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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

Blood (2011) 118 (21): 2170.

https://doi.org/10.1182/blood.V118.21.2170.2170

Published: 2011

Journal Articles

The Phenotype of Human STK4 Deficiency

Hengameh Abdollahpour, MD, PhD, Giridharan Appaswamy, PhD, Rita Beier, MD, Alejandro A. Schäffer, PhD, E. Michael Gertz, PhD, Hans H. Kreipe, MD, Dietmar Pfeifer, PhD, Bodo Grimbacher, MD, Sabine Lohrmann, MD, Roya Sherkat, MD, Christoph Klein, MD, PhD

Blood (2011) 118 (21): 692.

https://doi.org/10.1182/blood.V118.21.692.692

Published: 2011

Journal Articles

Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.

Blood (2009) 114 (22): 713.

https://doi.org/10.1182/blood.V114.22.713.713

Published: 2009

Journal Articles

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

Blood (2008) 112 (11): 5.

https://doi.org/10.1182/blood.V112.11.5.5

Published: 2008

Journal Articles

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

Johannes Jung, Georg Bohn, Anna Allroth, Kaan Boztug, Gudrun Brandes, Inga Sandrock, Alejandro A. Schäffer, Chozhavendan Rathinam, Inga Köllner, Carmela Beger, Reinhard Schilke, Karl Welte, Bodo Grimbacher, Christoph Klein

Blood (2006) 108 (1): 362–369.

https://doi.org/10.1182/blood-2005-11-4377

Published: 2006

Includes: Supplemental data

Journal Articles

A Variant of Congenital Neutropenia Is Caused by a 3′-UTR Mutation in the Gene Encoding the Endosomal Adaptor Protein p14 ( MAPBPIP ).

Georg Bohn, MD, Anna Allroth, Jens Thiel, MD, Alejandro A. Schäffer, Gudrun Brandes, MD, Erik Glocker, David Teis, PhD, Nicole Taub, Cornelia Zeidler, MD, Robert Geffers, PhD, Jan Buer, MD, Lukas A. Huber, MD/PhD, Karl Welte, MD/PhD, Bodo Grimbacher, MD, Christoph Klein, MD/PhD

Blood (2005) 106 (11): 92.

https://doi.org/10.1182/blood.V106.11.92.92

Published: 2005

Journal Articles

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B 12 ) absorption in vivo

Qianchuan He, Mette Madsen, Adam Kilkenney, Brittany Gregory, Erik I. Christensen, Henrik Vorum, Peter Højrup, Alejandro A. Schäffer, Ewen F. Kirkness, Stephan M. Tanner, Albert de la Chapelle, Urs Giger, Søren K. Moestrup, John C. Fyfe

Blood (2005) 106 (4): 1447–1453.

https://doi.org/10.1182/blood-2005-03-1197

Published: 2005

NARROW

G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis

The Phenotype of Human STK4 Deficiency

Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.

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

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

A Variant of Congenital Neutropenia Is Caused by a 3′-UTR Mutation in the Gene Encoding the Endosomal Adaptor Protein p14 ( MAPBPIP ).

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B 12 ) absorption in vivo

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ASH Publications

American Society of Hematology

G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis

The Phenotype of Human STK4 Deficiency

Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.

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

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

A Variant of Congenital Neutropenia Is Caused by a 3′-UTR Mutation in the Gene Encoding the Endosomal Adaptor Protein p14 ( MAPBPIP ).

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B 12 ) absorption in vivo

Email alerts

ASH Publications

American Society of Hematology

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