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Review

Gaucher disease: clinical profile and therapeutic developments

Pages 299-313 | Published online: 06 Dec 2010

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (3)

Patricia Fenton-Navarro, Eduardo Pérez-Campos, María del Socorro Pina-Canseco & Bertha Fenton-Navarro. (2017) Gaucher’s Disease and Hurler’s Syndrome in Two First Cousins. International Journal of Human Genetics 17:3, pages 109-117.
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Lunawati L Bennett & Kelsey Turcotte. (2015) Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease. Drug Design, Development and Therapy 9, pages 4639-4647.
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Einat B Vitner, Ayelet Vardi, Timothy M Cox & Anthony H Futerman. (2015) Emerging therapeutic targets for Gaucher disease. Expert Opinion on Therapeutic Targets 19:3, pages 321-334.
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Articles from other publishers (24)

Jiao Xu, Han Bao, Xinye Qi, Jiahui Wang, Hang Yin, Chunyang Shang, Rachel Leeyin Tan, Qunhong Wu & Weidong Huang. (2021) Family caregivers of rare disease: A survey on health‐related quality of life in family caregivers for Gaucher disease patients in China. Molecular Genetics & Genomic Medicine 9:9.
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Fatma İlknur VAROL, Ayşe SELİMOĞLU, Şükrü GÜNGÖR & Bengü MACİT. (2021) Gaucher Disease Type 1, A Rare Disease: A Single Center-ExperienceGaucher Hastalığı Tip 1, Nadir Bir Hastalık: Tek Merkez Deneyimi. Journal of Contemporary Medicine 11:2, pages 147-150.
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Laura Rigon, Concetta De Filippis, Barbara Napoli, Rosella Tomanin & Genny Orso. (2021) Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery. Biomedicines 9:3, pages 268.
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Manasa P. Srikanth & Ricardo A. Feldman. (2020) Elevated Dkk1 Mediates Downregulation of the Canonical Wnt Pathway and Lysosomal Loss in an iPSC Model of Neuronopathic Gaucher Disease. Biomolecules 10:12, pages 1630.
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E. P. Sysoeva, R. V. Ponomarev, K. A. Lukina, R. B. Chavynchak, S. B. Korotkova, M. V. Zhilyaeva, E. G. Nikitina, O. A. Markova, E. V. Gapchenko, A. M. Shuster, D. A. Kudlay & E. A. Lukina. (2020) Evaluation of the efficacy and safety of the biosimilar drug Glurazyme (imiglucerase) in patients with Gaucher disease type 1. Russian journal of hematology and transfusiology 65:1, pages 8-23.
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M. B. Belogurova, Yu. V. Dinikina, D. A. Kudlay & A. Yu. Borozinets. (2020) Gaucher disease in children: what has changed in the 21st century. Russian Journal of Pediatric Hematology and Oncology 6:4, pages 19-24.
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Mattias Andréasson, Göran Solders, Cecilia K. Björkvall, Maciej Machaczka & Per Svenningsson. (2019) Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series. Scientific Reports 9:1.
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Derralynn Hughes, Peter Mikosch, Nadia Belmatoug, Francesca Carubbi, TimothyM Cox, Ozlem Goker‐Alpan, Andreas Kindmark, PramodK Mistry, Ludger Poll, Neal Weinreb & Patrick Deegan. (2019) Gaucher Disease in Bone: From Pathophysiology to Practice. Journal of Bone and Mineral Research 34:6, pages 996-1013.
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Robert A. Brown, Antanina Voit, Manasa P. Srikanth, Julia A. Thayer, Tami J. Kingsbury, Marlene A. Jacobson, Marta M. Lipinski, Ricardo A. Feldman & Ola Awad. (2019) mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells. Disease Models & Mechanisms.
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Bianca Marchetti. (2018) Wnt/β-Catenin Signaling Pathway Governs a Full Program for Dopaminergic Neuron Survival, Neurorescue and Regeneration in the MPTP Mouse Model of Parkinson’s Disease. International Journal of Molecular Sciences 19:12, pages 3743.
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Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka & Per Svenningsson. (2017) Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher’s Disease Type 3. Frontiers in Neurology 8.
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Niti Goel & Kamali Chance. (2017) Biosimilars in rheumatology: understanding the rigor of their development. Rheumatology 56:2, pages 187-197.
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Constanza Bondar, Maximiliano Ormazabal, Andrea Crivaro, Malena Ferreyra-Compagnucci, María Delpino, Paula Rozenfeld & Juan Mucci. (2017) Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease. International Journal of Molecular Sciences 18:1, pages 112.
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KerriJ Kinghorn, AmirM Asghari & JorgeIván Castillo-Quan. (2017) The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease. Neural Regeneration Research 12:3, pages 380.
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Lucy M Collins, Janelle Drouin-Ouellet, Wei-Li Kuan, Timothy Cox & Roger A Barker. (2018) Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations. F1000Research 6, pages 1751.
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Lucy M Collins, Janelle Drouin-Ouellet, Wei-Li Kuan, Timothy Cox & Roger A Barker. (2017) Dermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations. F1000Research 6, pages 1751.
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Kerri J. Kinghorn, Sebastian Grönke, Jorge Iván Castillo-Quan, Nathaniel S. Woodling, Li Li, Ernestas Sirka, Matthew Gegg, Kevin Mills, John Hardy, Ivana Bjedov & Linda Partridge. (2016) A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin . The Journal of Neuroscience 36:46, pages 11654-11670.
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Azza Dandana, Souhaira Ben Khelifa, Hinda Chahed, Abdelhédi Miled & Salima Ferchichi. (2016) Gaucher Disease: Clinical, Biological and Therapeutic Aspects. Pathobiology 83:1, pages 13-23.
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Derralynn A. Hughes, Derlis E. Gonzalez, Elena A. Lukina, Atul Mehta, Madhulika Kabra, Deborah Elstein, Isaac Kisinovsky, Pilar Giraldo, Ashish Bavdekar, Thomas N. Hangartner, Nan Wang, Eric Crombez & Ari Zimran. (2015) Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long‐term data from phase III clinical trials. American Journal of Hematology 90:7, pages 584-591.
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Lucas Lopes Araújo Sousa, Moema Modesto Fonseca Rocha, Regina Ferraz Mendes & Raimundo Rosendo Prado Junior. (2014) Oral health of a child being treated for subtype I Gaucher's disease. Special Care in Dentistry 34:2, pages 100-104.
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Katelin E. Petersen, Cynthia A. Prows, Lisa J. Martin & Koffi N. Maglo. (2014) Personalized Medicine, Availability, and Group Disparity: An Inquiry into How Physicians Perceive and Rate the Elements and Barriers of Personalized Medicine. Public Health Genomics 17:4, pages 209-220.
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Junitsu Ito, Takafumi Saito, Chikahiko Numakura, Akiko Iwaba, Shinpei Sugahara, Rika Ishii, Chikako Sato, Hiroaki Haga, Kazuo Okumoto, Yuko Nishise, Hisayoshi Watanabe, Hiroyuki Ida, Kiyoshi Hayasaka, Hitoshi Togashi, Sumio Kawata & Yoshiyuki Ueno. (2013) A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage. Case Reports in Gastroenterology 7:2, pages 340-346.
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Angela Sanders, Harmony Hemmelgarn, Heather L. Melrose, Leanne Hein, Maria Fuller & Lorne A. Clarke. (2013) Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease. Blood Cells, Molecules, and Diseases 51:2, pages 109-115.
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Sean I. Savitz, Michael Benatar, Jeffrey L. Saver & Marc Fisher. (2008) Outcome Analysis in Clinical Trial Design for Acute Stroke: Physicians’ Attitudes and Choices. Cerebrovascular Diseases 26:2, pages 156-162.
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