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Journal Articles

Carbohydrate Glycosylation Deficiency Disorder Secondary to Absence of Phosphomannose Mutase Confers Both a Hemorrhagic and Thrombotic Phenotype

Katrina Gleditsch, DO, Afshin Ameri, MD

Blood (2015) 126 (23): 4713.

https://doi.org/10.1182/blood.V126.23.4713.4713

Published: 2015

Journal Articles

Identification of SEC23B as the Gene Responsible for Congenital Dyserythropoietic Anemia Type II using a Proteomic-Genomic Approach.

Paola Bianchi, Elisa Fermo, Cristina Vercellati, Carla Boschetti, Wilma Barcellini, Alessandra Iurlo, Anna Paola Marcello, Pier Giorgio Righetti, Alberto Zanella

Blood (2009) 114 (22): 4028.

https://doi.org/10.1182/blood.V114.22.4028.4028

Published: 2009

Journal Articles

Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc

Sviatlana Yakubenia, David Frommhold, Dirk Schölch, Christina C. Hellbusch, Christian Körner, Björn Petri, Claire Jones, Ute Ipe, M. Gabriele Bixel, Robert Krempien, Markus Sperandio, Martin K. Wild

Blood (2008) 112 (4): 1472–1481.

https://doi.org/10.1182/blood-2008-01-132035

Published: 2008

Includes: Supplemental data

Journal Articles

Large Deletion of Chromosome 11 Causes Acute Intermittent Porphyria in an Italian Family.

Elena Di Pierro, PhD, Valeria Besana, BD, Valeria Moriondo, BD, Dario Tavazzi, PhD, Giovanna Casalgrande, PhD, Emilio Rocchi, MD, Maria D. Cappellini, MD

Blood (2005) 106 (11): 3543.

https://doi.org/10.1182/blood.V106.11.3543.3543

Published: 2005

Journal Articles

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Ivan Martinez-Duncker, Thierry Dupré, Véronique Piller, Friedrich Piller, Jean-Jacques Candelier, Catherine Trichet, Gil Tchernia, Rafael Oriol, Rosella Mollicone

Blood (2005) 105 (7): 2671–2676.

https://doi.org/10.1182/blood-2004-09-3509

Published: 2005

NARROW

Carbohydrate Glycosylation Deficiency Disorder Secondary to Absence of Phosphomannose Mutase Confers Both a Hemorrhagic and Thrombotic Phenotype

Identification of SEC23B as the Gene Responsible for Congenital Dyserythropoietic Anemia Type II using a Proteomic-Genomic Approach.

Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc

Large Deletion of Chromosome 11 Causes Acute Intermittent Porphyria in an Italian Family.

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

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ASH Publications

American Society of Hematology

Carbohydrate Glycosylation Deficiency Disorder Secondary to Absence of Phosphomannose Mutase Confers Both a Hemorrhagic and Thrombotic Phenotype

Identification of SEC23B as the Gene Responsible for Congenital Dyserythropoietic Anemia Type II using a Proteomic-Genomic Approach.

Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc

Large Deletion of Chromosome 11 Causes Acute Intermittent Porphyria in an Italian Family.

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Email alerts

ASH Publications

American Society of Hematology

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