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Journal Articles

Evaluation of in Vitro Macrophage Characterization in Gaucher Type 1 (GD1) Patients

Paola Delbini, PhD, Viola Ghiandai, Maria Domenica Cappellini, MD, Lorena Duca, Isabella Nava, Elena Cassinerio, MD, Irene Motta, MD

Blood (2019) 134 (Supplement_1): 3592.

https://doi.org/10.1182/blood-2019-130032

Published: 2019

Journal Articles

Preliminary Results of a Prospective Observational Study to Assess the Prevalence of Gaucher Disease in an Adult Population Affected By MGUS

Gaetano Giuffrida, MD, Concetta Conticello, MD, Daniela Nicolosi, PharmD, Valeria Calafiore, Alessandra Romano, MD PhD, Ugo Consoli, MD, Caterina Musolino, MD, Vanessa Innao, Flavia Fiorenza, MD, Cinzia Maugeri, MD, Giuseppe Longo, MD, Maria Rocca Cingari, MD, Francesco Di Raimondo, MD

Blood (2019) 134 (Supplement_1): 4868.

https://doi.org/10.1182/blood-2019-129944

Published: 2019

Journal Articles

Bone Marrow Involvement in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long Term Enzyme Replacement Therapy (median 18 years)

Shoshana Revel-Vilk, MD, Jeffrey Szer, MBBS, Michal Becker Cohen, Ari Zimran, MD

Blood (2019) 134 (Supplement_1): 4862.

https://doi.org/10.1182/blood-2019-131013

Published: 2019

Journal Articles

Liver-Directed AAV Gene Therapy for Gaucher Disease

Carlos J Miranda, PhD, Miriam Canavese, PhD, Elisa Chisari, MS, Jalpa Pandya, MPhil, Clement Cocita, PhD, Maria Portillo, MRes, Jenny McIntosh, PhD, Azadeh Kia, PhD, Jonathan H. Foley, PhD, Allison Dane, PhD, Jey M Jeyakumar, PhD, Rose Sheridan, PhD, Romuald Corbau, Amit C. Nathwani, MD PhD

Blood (2019) 134 (Supplement_1): 3354.

https://doi.org/10.1182/blood-2019-124280

Published: 2019

Journal Articles

Results of a Prospective, Multicenter, Phase I/II Clinical Study in Pediatric and Adult Patients Using TCR Alpha/Beta and CD19 Depleted Haploidentical Hematopoietic Stem Cell Grafts Following Reduced-Intensity Conditioning

Blood (2018) 132 (Supplement 1): 604.

https://doi.org/10.1182/blood-2018-99-110124

Published: 2018

Journal Articles

Flow Cytometry Assay to Monitor Effectiveness of Gene Therapy Correction in Peripheral Blood Mononuclear Cells of Gaucher Disease Type I Patients

Cecilia Barese, MD PhD, Michael Waring, Richard Pfeifer, PhD DABT, Chris Mason, MD PhD

Blood (2018) 132 (Supplement 1): 5791.

https://doi.org/10.1182/blood-2018-99-119766

Published: 2018

Journal Articles

The Challenge of Unexplained Splenomegalies: Preliminary Data of the French Prospective Multi-Center Splenomegaly Study (SMS)

Guillaume Denis, MD, Laurence Sanhes, MD, Jean-Marc Ziza, MD PhD, Frederic Bauduer, MD PhD, Marc G. Berger, MD PhD, Regis T. Costello, MD PhD, Kawkab Mehdi, Martin Michaud, MD, Geoffrey Urbanski, MD, Christian Rose, MD PhD

Blood (2018) 132 (Supplement 1): 4815.

https://doi.org/10.1182/blood-2018-99-113123

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

Efficacy Evaluation of Liver-Directed Gene Therapy in Fabry Mice

Azadeh Kia, PhD, Jenny McIntosh, PhD, Cecilia Rosales, PhD, Paniz Hosseini, Rose Sheridan, Justyna Spiewak, Kevin Mills, Romuald Corbau, PhD, Amit C Nathwani, MD PhD

Blood (2018) 132 (Supplement 1): 2209.

https://doi.org/10.1182/blood-2018-99-116632

Published: 2018

Journal Articles

In Vitro Erythropoietic Response to Enzyme Replacement Therapy in Gaucher Type 1 Patients

Paola Delbini, PhD, Irene Motta, Elena Cassinerio, Lorena Duca, Elena Trombetta, Margherita Migone De Amicis, Maria Domenica Cappellini, MD

Blood (2017) 130 (Supplement 1): 3476.

https://doi.org/10.1182/blood.V130.Suppl_1.3476.3476

Published: 2017

Journal Articles

Defective Function of KCa3.1 Channels in Lysosomal Storage Disorders

Pilar Giraldo, PhD, Jorge J Cebolla, fellow, Pilar Irun, PhD, Laura Lopez de Frutos, MSc, Marcio Andrade-Campos, PhD, Ralf Köhler, PhD

Blood (2017) 130 (Supplement 1): 3562.

https://doi.org/10.1182/blood.V130.Suppl_1.3562.3562

Published: 2017

Journal Articles

Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm

William Morello, MD, Mirella Filocamo, Marina Stroppiano, Maja Di Rocco, MD, Nicola Tovaglieri, MD, Giovanna Russo, MD, Francesca Furlan, MD, Roberta Burnelli, MD, Andrea Pession, MD

Blood (2017) 130 (Supplement 1): 1187.

https://doi.org/10.1182/blood.V130.Suppl_1.1187.1187

Published: 2017

Journal Articles

Safety and Efficacy of Tcralpha/Beta and CD19 Depleted Haploidentical Stem Cell Transplantation Following Reduced Intensity Conditioning in Children: Results of a Prospective Multicenter Phase I/II Clinical Trial

Peter J. Lang, MD, Paul G. Schlegel, MD, Roland Meisel, MD, Ansgar S. Schulz, MD, Johann Greil, MD, Peter Bader, MD PhD, Sandra Karitzky, PhD, Silke Holtkamp, Christiane Siewert, PhD, Stefanie Pflitsch, Michael Schumm, DVM, Matthias K. Eyrich, MD, Markus Wiesneth, MD, Halvard Bonig, MD MA, Rupert Handgretinger, MD PhD

Blood (2017) 130 (Supplement 1): 214.

https://doi.org/10.1182/blood.V130.Suppl_1.214.214

Published: 2017

Journal Articles

The Phosphoinositide Kinase Pikfyve Regulates Lysosomal Biogenesis in Macrophages By Modulating the Transcription Factor EB (TFEB)

Francina Gonzalez, MSc, Aae Suzuki, Jessica Guzman, Lynn Spruce, Steven H Seeholzer, PhD, Charles S. Abrams, MD, Sang Hee Min, MDhD

Blood (2017) 130 (Supplement 1): 2276.

https://doi.org/10.1182/blood.V130.Suppl_1.2276.2276

Published: 2017

Journal Articles

Health-Related Quality of Life of Twenty-Seven Patients with Gaucher Disease Type I in China

Hongmin Li, PhD, Yuan Li, Zhangbiao Long, MD, Yali Du, Miao Chen, Junling Zhuang, Zhengqing Qiu, Zhao Wang, MD PhD, Bing Han

Blood (2017) 130 (Supplement 1): 4812.

https://doi.org/10.1182/blood.V130.Suppl_1.4812.4812

Published: 2017

Journal Articles

Correlation between Bone Disease and Genotype in Patients with Type 1 Gaucher Disease. Data from the Spanish Gaucher Disease Registry

Marcio Andrade-Campos, PhD, Pilar Irun, PhD, Mercedes Roca-Espiau, PhD, Pilar Giraldo, PhD

Blood (2017) 130 (Supplement 1): 3571.

https://doi.org/10.1182/blood.V130.Suppl_1.3571.3571

Published: 2017

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

TCR-Alpha/Beta and CD19 Depleted Haploidentical Stem Cell Transplantation Following Reduced Intensity Conditioning in Children: First Results of a Prospective Multicenter Phase I/II Clinical Trial

Peter J. Lang, MD, Paul G. Schlegel, MD, Roland Meisel, MD, Ansgar S. Schulz, MD, Johann Greil, MD, Peter Bader, MD, Sandra Karitzky, PhD, Silke Holtkamp, PhD, Christiane Siewert, PhD, Michael Schumm, VMD, Matthias K. Eyrich, MD, Markus Wiesneth, Halvard Bönig, MD, Rupert Handgretinger, MD

Blood (2016) 128 (22): 389.

https://doi.org/10.1182/blood.V128.22.389.389

Published: 2016

Journal Articles

Lysosomal Newborn Screening in a Cohort in Mexican Population-

Juana Ines Navarrete, MD

Blood (2015) 126 (23): 5581.

https://doi.org/10.1182/blood.V126.23.5581.5581

Published: 2015

Journal Articles

AAV Gene Therapy for MPS1 Corneal Clouding and Joint Stiffness

Melisa A. Vance, PhD, Matthew Hirsch, PhD, Richard Jude Samulski, PhD, Joanne Kurtzberg, MD, Laurie Goodrich, DVM, PhD ACVS Diplomate, Llanga Telmo, Bsc

Blood (2015) 126 (23): 2041.

https://doi.org/10.1182/blood.V126.23.2041.2041

Published: 2015

NARROW

Evaluation of in Vitro Macrophage Characterization in Gaucher Type 1 (GD1) Patients

Preliminary Results of a Prospective Observational Study to Assess the Prevalence of Gaucher Disease in an Adult Population Affected By MGUS

Bone Marrow Involvement in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long Term Enzyme Replacement Therapy (median 18 years)

Liver-Directed AAV Gene Therapy for Gaucher Disease

Results of a Prospective, Multicenter, Phase I/II Clinical Study in Pediatric and Adult Patients Using TCR Alpha/Beta and CD19 Depleted Haploidentical Hematopoietic Stem Cell Grafts Following Reduced-Intensity Conditioning

Flow Cytometry Assay to Monitor Effectiveness of Gene Therapy Correction in Peripheral Blood Mononuclear Cells of Gaucher Disease Type I Patients

The Challenge of Unexplained Splenomegalies: Preliminary Data of the French Prospective Multi-Center Splenomegaly Study (SMS)

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

Efficacy Evaluation of Liver-Directed Gene Therapy in Fabry Mice

In Vitro Erythropoietic Response to Enzyme Replacement Therapy in Gaucher Type 1 Patients

Defective Function of KCa3.1 Channels in Lysosomal Storage Disorders

Preliminary Results of Gau-PED Study: Prevalence of Gaucher Disease in Paediatric Patients Selected By an Appropriate Diagnostic Algorithm

Safety and Efficacy of Tcralpha/Beta and CD19 Depleted Haploidentical Stem Cell Transplantation Following Reduced Intensity Conditioning in Children: Results of a Prospective Multicenter Phase I/II Clinical Trial

The Phosphoinositide Kinase Pikfyve Regulates Lysosomal Biogenesis in Macrophages By Modulating the Transcription Factor EB (TFEB)

Health-Related Quality of Life of Twenty-Seven Patients with Gaucher Disease Type I in China

Correlation between Bone Disease and Genotype in Patients with Type 1 Gaucher Disease. Data from the Spanish Gaucher Disease Registry

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

TCR-Alpha/Beta and CD19 Depleted Haploidentical Stem Cell Transplantation Following Reduced Intensity Conditioning in Children: First Results of a Prospective Multicenter Phase I/II Clinical Trial

Lysosomal Newborn Screening in a Cohort in Mexican Population-

AAV Gene Therapy for MPS1 Corneal Clouding and Joint Stiffness

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American Society of Hematology

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