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Select item 104881051.

The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology—A Case Report and Review of the Literature

Paulina Sudul, Beata Piatkowska-Jakubas, Lukasz Pawlinski, Krystyna Galazka, Tomasz Sacha, Beata Kiec-Wilk

J Clin Med. 2023 Sep; 12(17): 5518. Published online 2023 Aug 25. doi: 10.3390/jcm12175518

PMCID:: PMC10488105

Abstract Article PDF–1.8M

Select item 102719622.

Polygenic Parkinson’s disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J. Koretsky, Dena Hernandez, Raquel Real, Roy N. Alcalay, Mike A Nalls, Huw R Morris, Anthony H. V. Schapira, Manisha Balwani, Ellen Sidransky

Mov Disord. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mov Disord. 2023 May; 38(5): 899–903. Published online 2023 Mar 3. doi: 10.1002/mds.29342

PMCID:: PMC10271962

Abstract Article PDF–380K

Select item 100953113.

High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy

Majdolen Istaiti, Dafna Frydman, Tama Dinur, Jeff Szer, Shoshana Revel-Vilk, Ari Zimran

Int J Mol Sci. 2023 Apr; 24(7): 6732. Published online 2023 Apr 4. doi: 10.3390/ijms24076732

PMCID:: PMC10095311

Abstract Article PDF–1.1M

Select item 99268074.

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile, Mariasanta Napolitano

Orphanet J Rare Dis. 2023; 18: 27. Published online 2023 Feb 13. doi: 10.1186/s13023-023-02623-7

PMCID:: PMC9926807

Abstract Article PDF–868K

Select item 99249095.

Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial

Raphael Schiffmann, Timothy M Cox, Jean-François Dedieu, Sebastiaan J M Gaemers, Julia B Hennermann, Hiroyuki Ida, Eugen Mengel, Pascal Minini, Pramod Mistry, Petra B Musholt, David Scott, Jyoti Sharma, M Judith Peterschmitt

Brain. 2023 Feb; 146(2): 461–474. Published online 2022 Oct 18. doi: 10.1093/brain/awac379

PMCID:: PMC9924909

Abstract Article PDF–1.9M

Select item 98210686.

Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review

Genaro Castillon, Shun-Chiao Chang, Yola Moride

J Clin Med. 2023 Jan; 12(1): 85. Published online 2022 Dec 22. doi: 10.3390/jcm12010085

PMCID:: PMC9821068

Abstract Article PDF–1.3M

Select item 97359047.

Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications

Silvia Linari, Giancarlo Castaman

J Clin Med. 2022 Dec; 11(23): 6920. Published online 2022 Nov 24. doi: 10.3390/jcm11236920

PMCID:: PMC9735904

Abstract Article PDF–1.8M

Select item 93144848.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 84880219.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, Jeffrey S. Dungan, ACMG Professional Practice and Guidelines Committee

Genet Med. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1793–1806. Published online 2021 Jul 20. doi: 10.1038/s41436-021-01203-z

Correction in:: Genet Med. 2021 Oct; 23(10): 2015.

PMCID:: PMC8488021

Abstract Article PDF–643K

Select item 788407710.

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes

Emily Daykin, Emory Ryan, Ellen Sidransky

Mol Genet Metab. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Mol Genet Metab. 2021 Feb; 132(2): 49–58. Published online 2021 Jan 9. doi: 10.1016/j.ymgme.2021.01.002

PMCID:: PMC7884077

Abstract Article PDF–369K

Select item 771375211.

The natural history of type 2 Gaucher disease in the 21st century: A retrospective study

Tamanna Roshan Lal, Gurpreet K. Seehra, Alta M. Steward, Chelsie N. Poffenberger, Emory Ryan, Nahid Tayebi, Grisel Lopez, Ellen Sidransky

Neurology. 2020 Oct 13; 95(15): e2119–e2130. doi: 10.1212/WNL.0000000000010605

PMCID:: PMC7713752

Abstract Article PDF–299K

Select item 749728912.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 685200613.

Gaucher Disease in Bone: From Pathophysiology to Practice

Derralynn Hughes, Peter Mikosch, Nadia Belmatoug, Francesca Carubbi, TimothyM Cox, Ozlem Goker‐Alpan, Andreas Kindmark, PramodK Mistry, Ludger Poll, Neal Weinreb, Patrick Deegan

J Bone Miner Res. 2019 Jun; 34(6): 996–1013. Published online 2019 Jun 24. doi: 10.1002/jbmr.3734

PMCID:: PMC6852006

Abstract Article PDF–2.4M

Select item 681485814.

Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series

Mattias Andréasson, Göran Solders, Cecilia K. Björkvall, Maciej Machaczka, Per Svenningsson

Sci Rep. 2019; 9: 15358. Published online 2019 Oct 25. doi: 10.1038/s41598-019-51976-2

PMCID:: PMC6814858

Abstract Article PDF–1.1M

Select item 601706215.

Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

Teresa Mena-Barragán, M. Isabel García-Moreno, Alen Sevšek, Tetsuya Okazaki, Eiji Nanba, Katsumi Higaki, Nathaniel I. Martin, Roland J. Pieters, José M. García Fernández, Carmen Ortiz Mellet

Molecules. 2018 Apr; 23(4): 927. Published online 2018 Apr 17. doi: 10.3390/molecules23040927

PMCID:: PMC6017062

Abstract Article PDF–2.2M

Select item 593112516.

Antigen-mediated regulation in monoclonal gammopathies and myeloma

Shiny Nair, Joel Sng, Chandra Sekhar Boddupalli, Anja Seckinger, Marta Chesi, Mariateresa Fulciniti, Lin Zhang, Navin Rauniyar, Michael Lopez, Natalia Neparidze, Terri Parker, Nikhil C. Munshi, Rachael Sexton, Bart Barlogie, Robert Orlowski, Leif Bergsagel, Dirk Hose, Richard A. Flavell, Pramod K. Mistry, Eric Meffre, Madhav V. Dhodapkar

JCI Insight. 2018 Apr 19; 3(8): e98259. Published online 2018 Apr 19. doi: 10.1172/jci.insight.98259

PMCID:: PMC5931125

Abstract Article PDF–3.4M

Select item 565693617.

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P. Shankar, Hagit Baris, Marwan Ghosn, Atul Mehta, Seymour Packman, Gregory Pastores, Milan Petakov, Sarit Assouline, Manisha Balwani, Sumita Danda, Evgueniy Hadjiev, Andres Ortega, Sebastiaan J. M. Gaemers, Regina Tayag, M. Judith Peterschmitt

Am J Hematol. 2017 Nov; 92(11): 1170–1176. Published online 2017 Oct 3. doi: 10.1002/ajh.24877

PMCID:: PMC5656936

Abstract Article PDF–892K

Select item 545633118.

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Tamanna Roshan Lal, Ellen Sidransky

Diseases. 2017 Mar; 5(1): 10. Published online 2017 Mar 2. doi: 10.3390/diseases5010010

PMCID:: PMC5456331

Abstract Article PDF–219K

Select item 540945019.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy

Timothy M. Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S. Kishnani, Maria Lucia Pedroso, Sebastiaan J. M. Gaemers, Regina Tayag, M. Judith Peterschmitt

Blood. 2017 Apr 27; 129(17): 2375–2383. Prepublished online 2017 Feb 6. doi: 10.1182/blood-2016-12-758409

PMCID:: PMC5409450

Abstract Article

Select item 531914920.

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb

Orphanet J Rare Dis. 2017; 12: 38. Published online 2017 Feb 20. doi: 10.1186/s13023-017-0592-6

PMCID:: PMC5319149

Abstract Article PDF–453K

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