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Articles

Gaucher disease epidemiology and natural history: a comprehensive review of the literature

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Sepehr Farahbakhshian, Timothy J. Inocencio, Gregory Poorman, Ekaterina Wright, Ravi Ramesh Pathak & Michael Bullano. (2022) The budget impact of enzyme replacement therapy in type 1 Gaucher disease in the United States. Journal of Medical Economics 25:1, pages 755-761.
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Pilar Giraldo & Marcio Andrade-Campos. (2021) Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease. Journal of Blood Medicine 12, pages 1045-1056.
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Richard Sam, Emory Ryan, Emily Daykin & Ellen Sidransky. (2021) Current and emerging pharmacotherapy for Gaucher disease in pediatric populations. Expert Opinion on Pharmacotherapy 22:11, pages 1489-1503.
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Sam E. Gary, Emory Ryan, Alta M. Steward & Ellen Sidransky. (2018) Recent advances in the diagnosis and management of Gaucher disease. Expert Review of Endocrinology & Metabolism 13:2, pages 107-118.
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Articles from other publishers (96)

Carly A. Rasmussen, Allegra Quadri, Erika Vucko, Katherine Kim, Rachel Hickey, Joshua J. Baker, Joel Charrow & Carlos E. Prada. (2024) Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease. Molecular Genetics and Metabolism 141:1, pages 107736.
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Gary C. Kanel. 2024. Atlas of Liver Pathology. Atlas of Liver Pathology 271 330.e10 .
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani & Ida Vanessa Doederlein Schwartz. (2023) Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF. Orphanet Journal of Rare Diseases 18:1.
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Mengjun Liang, Shiyan Zhu, Shaoqin Liu, Jianquan Chen, Danni Li, Chengzhi Luo, Xiaowen Wang & Zongpei Jiang. (2023) Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report. BMC Nephrology 24:1.
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Yuta Koto, Aya Narita, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara & Norio Sakai. (2023) Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study. Molecular Genetics and Metabolism Reports 36, pages 100994.
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Ido Azuri, Ameer Wattad, Keren Peri-Hanania, Tamar Kashti, Ronnie Rosen, Yaron Caspi, Majdolen Istaiti, Makram Wattad, Yaakov Applbaum, Ari Zimran, Shoshana Revel-Vilk & Yonina C. Eldar. (2023) A Deep-Learning Approach to Spleen Volume Estimation in Patients with Gaucher Disease. Journal of Clinical Medicine 12:16, pages 5361.
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Shweta P Mhatre, Mamta Muranjan & Nithya J Gogtay. (2023) Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai. Indian Journal of Pediatrics.
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Tanya Collin-Histed, Madeline Stoodley, Kathleen Beusterien, Deborah Elstein, Dena H. Jaffe, Shoshana Revel-Vilk & Elin Haf Davies. (2023) A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative. Orphanet Journal of Rare Diseases 18:1.
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Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta, Immacolata Tartaglione, Fiorina Giona, Franca Fagioli, Alberto Burlina, Rosamaria Mura, Bambina Russo, Assunta Tornesello, Giuseppe Menna, Delia Russo, Maurizio Caniglia, Sergio Schettini, Daniela Onofrillo, Saverio Ladogana & Adele Civino. (2023) GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia. Orphanet Journal of Rare Diseases 18:1.
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Meimei Wang, Fengqin Li, Jing Zhang, Cheng Lu & Weijing Kong. (2023) Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis. Journal of Pediatric Hematology/Oncology 45:4, pages 181-188.
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Ramazan Uzen, Fahri Bayram, Huseyin Dursun, Fatih Kardas, Mustafa Cakir, Nurhan Cucer, Ahmet Eken & Hamiyet Donmez-Altuntas. (2023) Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers. Blood Cells, Molecules, and Diseases 100, pages 102728.
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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. (2023) Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement Disorders 38:5, pages 899-903.
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Courtney N. Haller, Hana Paladichuk, Catherine A. Ziats, Catherine A. Buchanan & Lucia Z. Diaz. (2022) Ichthyosis, petechiae, and arthrogryposis in a neonate. Pediatric Dermatology 40:2, pages 352-354.
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İzzet Erdal, Yılmaz Yıldız, Gizem Önal, Oktay Halit Aktepe, Selin Ardalı Düzgün, Arzu Sağlam, Serap Dökmeci Emre & Hatice Serap Sivri. (2023) Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report. Endocrine, Metabolic & Immune Disorders - Drug Targets 23:2, pages 230-234.
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Derralynn A Hughes & Francesca Ferrante. (2023) GALILEO-1: a Phase I/II safety and efficacy study of FLT201 gene therapy for Gaucher disease type 1. Future Rare Diseases.
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Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci & Alessio Coi. (2023) Profile of Drug Utilization in Patients with Rare Diseases in Tuscany, Italy: A Population-Based Study. International Journal of Environmental Research and Public Health 20:2, pages 937.
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Paolo Spagnolo & Nicol Bernardinello. 2023. Orphan Lung Diseases. Orphan Lung Diseases 487 502 .
Raphael Borie, Caroline Kannengiesser & Bruno Crestani. 2023. Orphan Lung Diseases. Orphan Lung Diseases 423 439 .
Pilar Giraldo, Marcio Andrade‐Campos & Montserrat Morales. (2022) Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey. JIMD Reports 64:1, pages 90-103.
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Johannes Nadler, Maren Hermanns‐Clausen & Karin Dilger. (2022) Suicidal attempt with eliglustat overdose. JIMD Reports 64:1, pages 23-26.
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Genaro Castillon, Shun-Chiao Chang & Yola Moride. (2022) Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review. Journal of Clinical Medicine 12:1, pages 85.
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Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada & Norio Sakai. (2022) Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan. Orphanet Journal of Rare Diseases 17:1.
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Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue & Jovelle Fernandez. (2022) An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan. Orphanet Journal of Rare Diseases 17:1.
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Kanchan Chauhan, Cindy N. Olivares‐Medina, Maria V. Villagrana‐Escareño, Karla Juárez‐Moreno, Rubén D. Cadena‐Nava, Ana G. Rodríguez‐Hernández & Rafael Vazquez‐Duhalt. (2022) Targeted Enzymatic VLP‐Nanoreactors with β‐Glucocerebrosidase Activity as Potential Enzyme Replacement Therapy for Gaucher's Disease. ChemMedChem 17:19.
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Suvarna Magar, Madhuri Engade, Tushar Idhate, Sachin Khambayate, Shaikh Nilofer & Ana Kalia. (2022) Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital. Cureus.
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Mahsa Ghasemzad, Mahdieh Hashemi, Zohre Miri Lavasani, Nikoo Hossein-khannazer, Haleh Bakhshandeh, Roberto Gramignoli, Hani Keshavarz Alikhani, Mustapha Najimi, Saman Nikeghbalian & Massoud Vosough. (2022) Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders. Bioengineering 9:8, pages 392.
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Nohela B. Arévalo, Cristian M. Lamaizon, Viviana A. Cavieres, Patricia V. Burgos, Alejandra R. Álvarez, María J. Yañez & Silvana Zanlungo. (2022) Neuronopathic Gaucher disease: Beyond lysosomal dysfunction. Frontiers in Molecular Neuroscience 15.
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Matteo Pavan, Davide Bassani, Giovanni Bolcato, Maicol Bissaro, Mattia Sturlese & Stefano Moro. (2022) Computational Strategies to Identify New Drug Candidates against Neuroinflammation. Current Medicinal Chemistry 29:27, pages 4756-4775.
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Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte, Marcomaria Zora, Emanuela Maria Marsana, Giovanni Duro & Salvatore Corrao. (2022) Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case. Biology 11:6, pages 914.
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Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo & Kimitoshi Nakamura. (2022) Newborn screening for Gaucher disease in Japan. Molecular Genetics and Metabolism Reports 31, pages 100850.
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K. R. SabithaDivya ChandranAshok K. ShettyDinesh Upadhya. (2022) Delineating the Neuropathology of Lysosomal Storage Diseases Using Patient-Derived Induced Pluripotent Stem Cells. Stem Cells and Development 31:9-10, pages 221-238.
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Tuğba AKBEY KOÇAK & Şahin ERDÖL. (2022) Sfingolipidoz Tanısı ile İzlediğimiz Olguların Değerlendirilmesi: Tek Merkez DeneyimiEvaluation of the Cases We Followed with the Diagnosis of Sphingolipidosis: Single Center Experience. Uludağ Üniversitesi Tıp Fakültesi Dergisi 48:1, pages 65-69.
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Ibrahim Demirci, Tevfik Demir, Selcuk Dagdelen, Cem Haymana, Ilker Tasci, Aysegul Atmaca, Derun Ertugrul, Naim Ata, Mustafa Sahin, Serpil Salman, Ibrahim Sahin, Rifat Emral, Ugur Unluturk, Erman Cakal, Osman Celik, Murat Caglayan, Ilhan Satman & Alper Sonmez. (2022) No association of Gaucher disease with COVID‐19‐related outcomes: a nationwide cohort study. Internal Medicine Journal 52:3, pages 379-385.
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Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E Mercier, Georges-Étienne Rivard & Christiane Auray-Blais. (2022) Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients. Bioanalysis 14:4, pages 223-240.
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Priya S. Kishnani, Walla Al-Hertani, Manisha Balwani, Özlem Göker-Alpan, Heather A. Lau, Melissa Wasserstein, Neal J. Weinreb & Gregory Grabowski. (2022) Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Molecular Genetics and Metabolism 135:2, pages 154-162.
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Keika Adachi, Hirobumi Tokuyama, Yoichi Oshima, Tomoaki Itoh, Akinori Hashiguchi, Hiroyuki Yamakawa, Tadayasu Togawa, Hitoshi Sakuraba, Shu Wakino & Hiroshi Itoh. (2021) Fabry disease associated with multiple myeloma: a case report. CEN Case Reports 11:1, pages 146-153.
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Ioannis Gigis, Charalampos Pitsilos, Efthimios Samoladas, Charalampos Pavlopoulos, Prodromos Hytiroglou, Konstantinos Ditsios & Pericles Papadopoulos. (2022) Gaucher Disease: An Unusual Cause of Knee Pain. JAAOS: Global Research and Reviews 6:10.
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Kazuki Kodera, Noriko Matsui, Akihiko Saitoh & Hideaki Matsui. (2022) Loss of GBA in zebrafish leads to dopaminergic neurodegeneration, but overexpression of α-synuclein does not further worsen degeneration. NeuroReport Publish Ahead of Print.
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Raphael Borie, Pierre Le Guen, Mada Ghanem, Camille Taillé, Susan Mathai, Philippe Dieudé, Caroline Kannengiesser & Bruno Crestani. 2022. Encyclopedia of Respiratory Medicine. Encyclopedia of Respiratory Medicine 96 113 .
Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini & Anthony HV Schapira. (2021) The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease. Neurodegenerative Disease Management 11:6, pages 451-458.
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Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, T. M. Cox, F. M. Platt, S. Banka, A. Chakrapani, P. B. Deegan, T. Geberhiwot, D. A. Hughes, S. Jones, R. H. Lachmann, S. Santra, R. Sharma & A. Vellodi. (2021) In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet Journal of Rare Diseases 16:1.
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Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer & Joel Frader. (2021) A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide. Orphanet Journal of Rare Diseases 16:1.
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Laura Masi. (2021) Bone complications in Gaucher disease. International Journal of Bone Fragility 1:3, pages 114-119.
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Nathalie Guffon. (2021) Maladies de Gaucher, de Niemann-Pick par déficit en sphingomyélinase acide et de Niemann-Pick type C. Revue Francophone des Laboratoires 2021:536, pages 30-34.
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Daria Messelodi, Salvatore Nicola Bertuccio, Valentina Indio, Silvia Strocchi, Alberto Taddia, Salvatore Serravalle, Jessica Bandini, Annalisa Astolfi & Andrea Pession. (2021) iPSC-Derived Gaucher Macrophages Display Growth Impairment and Activation of Inflammation-Related Cell Death. Cells 10:11, pages 2822.
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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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Gonca KILIÇ YILDIRIM & Neslihan ANDIC. (2021) Evaluation of Clinical, Biochemical, and Genetic Characteristics and Long-Term Follow up of Adult Patients with Non-Neuronopathic Gaucher’s Disease. OSMANGAZİ JOURNAL OF MEDICINE.
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Judith Leyens, Tim Th. A. Bender, Martin Mücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach & Matthias F. Seidel. (2021) The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis. Orphanet Journal of Rare Diseases 16:1.
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Raphaël Borie, Bruno Crestani, Alice Guyard & Olivier Lidove. (2021) Interstitial lung disease in lysosomal storage disorders. European Respiratory Review 30:160, pages 200363.
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Jenny Do, Gani Perez, Bahafta Berhe, Nahid Tayebi & Ellen Sidransky. (2021) Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease. International Journal of Molecular Sciences 22:13, pages 6826.
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Muna Abed Rabbo, Yara Khodour, Laurie S. Kaguni & Johnny Stiban. (2021) Sphingolipid lysosomal storage diseases: from bench to bedside. Lipids in Health and Disease 20:1.
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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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Martin Weber, Sang-Won Min, Tom Truong, Jeffrey Hung, Stephanie Dale, Mike Reichelt, Savita Ubhayakar, Carol Cain-Hom, Miriam Baca, Zhiyu Jiang, Qingling Li, Robert Brendza, Han Lin, Chung Kung, William F. Forrest, Cristine Quiason-Huynh, Wendy Sandoval, Buyun Chen, Yuzhong Deng, Amy Easton, Oded Foreman, Abdoulaye Sene & Baris Bingol. (2021) Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity. Scientific Reports 11:1.
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Tarek Owaidah, Fahad Alabbas, Iman Alhazmi, Hussain Al Saeed, Saud Balelah, Ghaleb ElYamany, Ohoud Kashari, Mohamad Qari, Mahasen Saleh, Sherif Roushdy & Marwan ElBagoury. (2021) Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia. Journal of Applied Hematology 12:3, pages 123.
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Marwan ElBagoury, Aly Ezzat, Sherif Roushdy & Yahia Aktham. (2021) A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. International Journal of Medicine in Developing Countries, pages 1339-1344.
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Daniela Arturo Terranova, Lina Johanna Moreno Giraldo, Henry Idrobo & José María Satizabal. (2021) Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease. Journal of Inborn Errors of Metabolism and Screening 9.
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Hakmin Lee, Jiyoung Oh, Jungho Han, Min Jung Lee, Joonsik Park, Seung Hwan Baek, Rita Yu, Ho Seon Eun, Min Soo Park & Jeong Eun Shin. (2021) Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report. Perinatology 32:4, pages 208.
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晓洁 步. (2021) A Case of Gaucher Disease Accompanied with the Spinal Deformity and Literature Review. Advances in Clinical Medicine 11:08, pages 3511-3516.
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晓洁 步. (2021) A Case of Gaucher Disease in the Children Who Accepts the Treatment of Splenectomy and Imiglucerase and Literature Review. Advances in Clinical Medicine 11:03, pages 1187-1192.
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晓洁 步. (2021) The Clinical Characteristics and Treatment Analysis of Bone Damage in Children with Gaucher Disease. Advances in Clinical Medicine 11:12, pages 5723-5728.
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Anitha M. Barney, Sumita Danda, Aby Abraham, N.A. Fouzia, Aruna Gowdra, Suneetha Susan Cleave Abraham, Mohan Sony, Sweta Das, Sophy Korula, Sarah Mathai, Anna Simon & Sathish Kumar. (2021) Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study. Public Health Genomics 24:3-4, pages 139-148.
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Chengfang Tang, Xuefang Jia, Fang Tang, Sichi Liu, Xiang Jiang, Xiaoyuan Zhao, Huiying Sheng, Minzhi Peng, Li Liu & Yonglan Huang. (2021) Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS. Clinical Biochemistry 87, pages 79-84.
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Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo & Han-Wook Yoo. (2020) The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects. Orphanet Journal of Rare Diseases 15:1.
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Hans E. Anderson & Matthew R. G. Taylor. (2020) Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1. American Journal of Medical Genetics Part A 182:12, pages 2988-2993.
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Alba Navarro-Romero, Marta Montpeyó & Marta Martinez-Vicente. (2020) The Emerging Role of the Lysosome in Parkinson’s Disease. Cells 9:11, pages 2399.
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Yishay Weill, Ari Zimran, David Zadok, Lauren M. Wasser, Shoshana Revel-Vilk, Joel Hanhart, Tama Dinur, David Arkadir & Michal Becker-Cohen. (2020) Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease. International Journal of Molecular Sciences 21:19, pages 7027.
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Lara Stute & Rejko Krüger. (2020) Ansätze zur Etablierung von Präzisionsmedizin bei der Parkinson-Krankheit mit dem Schwerpunkt Genetik. Fortschritte der Neurologie · Psychiatrie 88:09, pages 558-566.
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My Lan Tran, Yves Génisson, Stéphanie Ballereau & Cécile Dehoux. (2020) Second-Generation Pharmacological Chaperones: Beyond Inhibitors. Molecules 25:14, pages 3145.
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G. B. Movsisyan, A. N. Surkov, L. S. Namazova-Baranova & K. V. Savostyanov. (2020) Features of the diagnosis of Gaucher disease in children in the Russian Federation. Russian Journal of Pediatric Hematology and Oncology 7:2, pages 42-53.
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Salman Akram, Anum Maqsood & Faisal Akram. (2020) Psychosis in Gaucher's Disease. Psychiatric Annals 50:7, pages 317-320.
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Rachel Offenbacher, Brad Rybinski, Tuhina Joseph, Nora Rahmani, Thomas Boucher & Daniel A. Weiser. (2020) An 8-Year-Old Boy With Fever, Splenomegaly, and Pancytopenia. Pediatrics 146:1.
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Andrew J. Degnan, Victor M. Ho-Fung, Dah-Jyuu Wang, Can Ficicioglu & Diego Jaramillo. (2020) Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients. Clinical Imaging 63, pages 1-6.
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Y. S. A. Mohamed, M. K. Zayet, O. M. Omar & A. M. El-Beshlawy. (2019) Jaw bones’ involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients. European Archives of Paediatric Dentistry 21:2, pages 241-247.
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Parker H. Johnson, Neal J. Weinreb, James C. Cloyd, Paul J. Tuite & Reena V. Kartha. (2020) GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies. Molecular Genetics and Metabolism 129:2, pages 35-46.
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Leah Zaretsky, Natasha Zeid, Hetanshi Naik, Roy N. Alcalay & Manisha Balwani. (2019) Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population. Journal of Genetic Counseling 29:1, pages 105-111.
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Tatiana Raskovalova, Patrick B. Deegan, Pramod K. Mistry, Elena Pavlova, Ruby Yang, Ari Zimran, Juliette Berger, Céline Bourgne, Bruno Pereira, José Labarère & Marc G. Berger. (2020) Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 106:2, pages 437-445.
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Mohammad Fadhil Ibraheem & Shaymaa Jamal Ahmed. (2020) Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children. Journal of Child Science 10:01, pages e202-e206.
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Paolo Spagnolo, Jelle R. Miedema, Jan H. von der Thüsen & Marlies S. Wijsenbeek. 2019. Pulmonary Manifestations of Systemic Diseases. Pulmonary Manifestations of Systemic Diseases 319 332 .
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B. Faucher, J. Seguier, L. Swiader, C. Cuquemelle, D. Cerutti & M. Ebbo. (2019) Maladie de Gaucher de type 1 simulant une thrombopénie immunologique : intérêt de l’hyperferritinémie et de l’hypergammaglobulinémie dans le bilan d’une thrombopénie isolée. La Revue de Médecine Interne 40:10, pages 680-683.
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Julien Baruteau & Simon N. Waddington. (2019) Fetal gene therapy for neurodegenerative lysosomal storage diseases. Journal of Inherited Metabolic Disease 42:3, pages 391-393.
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Alberto Ortega-Rosales, Carlos Burneo-Rosales, Gilda Romero-Ulloa & Gabriela Burneo-Rosales. (2019) Case Report: Pancytopenia as an indicator for lysosomal storage disease (Gaucher's Disease). F1000Research 8, pages 755.
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