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Journal Articles

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Nagabhishek Moka, MD, Dong Chen, MD PhD, Chen Han, Kevin J O'Brien, ANP, Sara Haroutinian, Laryssa Huryn, Wendy Introne, MD, Ellen Macnamara, William A. Gahl, MD PhD, May Christine Malicdan, Bernadette Gochuico, MD, Koyamangalath Krishnan, MD

Blood (2018) 132 (Supplement 1): 1153.

https://doi.org/10.1182/blood-2018-99-109829

Published: 2018

Journal Articles

Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Arshi Naz, PhD, Qurat Abedin, M.Sc, Shariq Ahmed, MPhil, Saima Siddiqui, FCPS, Tahir Shamsi

Blood (2018) 132 (Supplement 1): 4952.

https://doi.org/10.1182/blood-2018-99-120385

Published: 2018

Journal Articles

Jordans anomaly

Daniel Winokur, William LiPera

Blood (2018) 131 (7): 837.

https://doi.org/10.1182/blood-2017-10-812677

Published: 2018

Journal Articles

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Marion Eveillard, PharmD, PhD, Myriam Chevalier, Thomas Besnard, Benjamin Cogne, Alice Kuster, Stephane Bezieau, Marie C Bene, PharmSciD, PhD, Claire Beneteau

Blood (2016) 128 (22): 1331.

https://doi.org/10.1182/blood.V128.22.1331.1331

Published: 2016

Journal Articles

Protection of Factor VIII-Specific IgG Antibody Response and IgE Formation By Pretreatment with Liposomal α-Galactosylceramide in the Enzyme Replacement Therapy Mouse Model

Hidetoshi Akimoto, PhD, Emi Fukuda-Kawaguchi, PhD, Omar Duramad, PhD, Yasuyuki Ishii, PhD

Blood (2016) 128 (22): 2522.

https://doi.org/10.1182/blood.V128.22.2522.2522

Published: 2016

Journal Articles

Morphology of Niemann-Pick type A metabolic storage disorder

Robin M. Ireland

Blood (2016) 128 (13): 1777.

https://doi.org/10.1182/blood-2016-07-726141

Published: 2016

Journal Articles

Morphology of Niemann-Pick type C metabolic storage disorder

Robin M. Ireland

Blood (2016) 128 (8): 1153.

https://doi.org/10.1182/blood-2016-06-720573

Published: 2016

Journal Articles

The Data Quality of Splenomegaly ICD-10 Diagnoses in a Population-Based Hospital Discharge Registry: A Preliminary Analysis

Emelie Curovic Rotbain, BM, Dennis Lund Hansen, MD, Henrik Frederiksen, MD PhD

Blood (2015) 126 (23): 5571.

https://doi.org/10.1182/blood.V126.23.5571.5571

Published: 2015

Journal Articles

Screening Method for Hepatic Fibrinogen Storage Disease Associated with Congenital Hypofibrinogenemia

Shinpei Arai, MS, Saki Mukai, BA, Yuka Takezawa, PhD, Mitsutoshi Sugano, PhD, Takayuki Honda, MD PhD, Fumihiro Ishida, MD PhD, Nobuo Okumura, PhD

Blood (2015) 126 (23): 3504.

https://doi.org/10.1182/blood.V126.23.3504.3504

Published: 2015

Journal Articles

Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058

Gregory M Pastores, Barry E Rosenbloom, MD, Neal J Weinreb, Ozlem Goker-Alpan, Rebecca Mardach, Mark Lipson, Jennifer Ibrahim, Gabriel M Cohn, David Zahrieh, Pramod K Mistry

Blood (2011) 118 (21): 1101.

https://doi.org/10.1182/blood.V118.21.1101.1101

Published: 2011

Journal Articles

Macrothrombocytopenia and Hemolysis Associated with Phytosterolemia

Gaifeng Wang, Zhaoyue Wang, Lijuan Cao, Minghua Jiang, Xia Bai, Changgeng Ruan, MD, PhD

Blood (2010) 116 (21): 2515.

https://doi.org/10.1182/blood.V116.21.2515.2515

Published: 2010

Journal Articles

Intravenous Busulfan: Pharmacokinetic Disposition and Clinical Outcomes in Children Undergoing Hematopoietic Stem Cell Transplant.

Tal Schechter, MD, Yaron Finkelstein, MD, John Doyle, MD, Zulfikaral Verjee, PhD, Gideon Koren, MD, Lee Dupuis, MScPhm

Blood (2005) 106 (11): 1760.

https://doi.org/10.1182/blood.V106.11.1760.1760

Published: 2005

Journal Articles

Pulmonary Complications Due to Iduronidase Deficiency (Hurler Syndrome) Linked to Active Pro-Inflammatory Status.

Angela Panoskaltsis-Mortari, PhD, Andrew Price, Kevin Tram, Melinda Berthold, Ron McElmurry, Jakub Tolar, MD PhD, Paul Orchard, MD, Charlie Peters, MD, Lorne Clarke, MD, Bruce R. Blazar, MD

Blood (2004) 104 (11): 1838.

https://doi.org/10.1182/blood.V104.11.1838.1838

Published: 2004

Journal Articles

Balanced Oral Substrate Reduction Therapy for Patients with Mild to Moderate Gaucher’s Disease: Initial Results in Clinical Practice.

Derralynn A. Hughes, MA DPhil MRCP, Robert J. Baker, MSc, Linda Richfield, RGN RM, Alan Milligan, RGJ RGN, Rebecca Bruce, RGN, Atul B. Mehta, MD FRCP FRCPath

Blood (2004) 104 (11): 3820.

https://doi.org/10.1182/blood.V104.11.3820.3820

Published: 2004

Journal Articles

Hepcidin Dysregulation in Patients with Type 1 Gaucher’s Disease.

Derralynn A. Hughes, MA DPhil MRCP, Anna Li, BSc, Satish Keshav, DPhil FRCP, Atul Mehta, MD FRCP FRCPath

Blood (2004) 104 (11): 3824.

https://doi.org/10.1182/blood.V104.11.3824.3824

Published: 2004

Journal Articles

Survival after transplantation of unrelated donor umbilical cord blood is comparable to that of human leukocyte antigen–matched unrelated donor bone marrow: results of a matched-pair analysis

Juliet N. Barker, Stella M. Davies, Todd DeFor, Norma K. C. Ramsay, Daniel J. Weisdorf, John E. Wagner

Blood (2001) 97 (10): 2957–2961.

https://doi.org/10.1182/blood.V97.10.2957

Published: 2001

Journal Articles

Genetically Corrected Autologous Stem Cells Engraft, But Host Immune Responses Limit Their Utility in Canine -L-iduronidase Deficiency

Carolyn Lutzko, Stephen Kruth, Anthony C.G. Abrams-Ogg, Kathy Lau, Liheng Li, Brian R. Clark, Christine Ruedy, Shaherose Nanji, Robert Foster, Donald Kohn, Robert Shull, Ian D. Dubé

Blood (1999) 93 (6): 1895–1905.

https://doi.org/10.1182/blood.V93.6.1895.406k02_1895_1905

Published: 1999

Journal Articles

Hurler Syndrome: II. Outcome of HLA-Genotypically Identical Sibling and HLA-Haploidentical Related Donor Bone Marrow Transplantation in Fifty-Four Children

Blood (1998) 91 (7): 2601–2608.

https://doi.org/10.1182/blood.V91.7.2601

Published: 1998

NARROW

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Jordans anomaly

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Protection of Factor VIII-Specific IgG Antibody Response and IgE Formation By Pretreatment with Liposomal α-Galactosylceramide in the Enzyme Replacement Therapy Mouse Model

Morphology of Niemann-Pick type A metabolic storage disorder

Morphology of Niemann-Pick type C metabolic storage disorder

The Data Quality of Splenomegaly ICD-10 Diagnoses in a Population-Based Hospital Discharge Registry: A Preliminary Analysis

Screening Method for Hepatic Fibrinogen Storage Disease Associated with Congenital Hypofibrinogenemia

Report on the Safety of Velaglucerase Alfa Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease and the Transition From Clinic to Home Infusions During Treatment Protocol HGT-GCB-058

Macrothrombocytopenia and Hemolysis Associated with Phytosterolemia

Intravenous Busulfan: Pharmacokinetic Disposition and Clinical Outcomes in Children Undergoing Hematopoietic Stem Cell Transplant.

Pulmonary Complications Due to Iduronidase Deficiency (Hurler Syndrome) Linked to Active Pro-Inflammatory Status.

Balanced Oral Substrate Reduction Therapy for Patients with Mild to Moderate Gaucher’s Disease: Initial Results in Clinical Practice.

Hepcidin Dysregulation in Patients with Type 1 Gaucher’s Disease.

Survival after transplantation of unrelated donor umbilical cord blood is comparable to that of human leukocyte antigen–matched unrelated donor bone marrow: results of a matched-pair analysis

Genetically Corrected Autologous Stem Cells Engraft, But Host Immune Responses Limit Their Utility in Canine -L-iduronidase Deficiency

Hurler Syndrome: II. Outcome of HLA-Genotypically Identical Sibling and HLA-Haploidentical Related Donor Bone Marrow Transplantation in Fifty-Four Children

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American Society of Hematology

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ASH Publications

American Society of Hematology

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