Citations (32)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (2)
Brandon Lucari, Eran Tallis, Vernon Reid Sutton & Timothy Porea. (2023) Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. Pediatric Hematology and Oncology 40:4, pages 422-428.
Read now
Read now
Samantha Kimball, Francis Choy, Agnes Zay & Dominick Amato. (2011) Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes. International Medical Case Reports Journal 4, pages 17-20.
Read now
Read now
Articles from other publishers (30)
Nathaniel Barber & Lindsay Freud. (2023) Advances in Fetal Cardiac Imaging and Intervention. CJC Pediatric and Congenital Heart Disease.
Crossref
Crossref
Jun-Zhe Wang, Yuna Shimadate, Maki Kise, Atsushi Kato, Yue-Mei Jia, Yi-Xian Li, George W.J. Fleet & Chu-Yi Yu. (2022) trans, trans-2-C-Aryl-3,4-dihydroxypyrrolidines as potent and selective β-glucosidase inhibitors: Pharmacological chaperones for Gaucher disease. European Journal of Medicinal Chemistry 238, pages 114499.
Crossref
Crossref
Annie Brown, Jiayi Zhang, Brendan Lawler & Biao Lu. (2021) Recapture Lysosomal Enzyme Deficiency via Targeted Gene Disruption in the Human Near-Haploid Cell Line HAP1. Genes 12:7, pages 1076.
Crossref
Crossref
Igor A. Kaltashov, Cedric E. Bobst, Jake Pawlowski & Guanbo Wang. (2020) Mass spectrometry-based methods in characterization of the higher order structure of protein therapeutics. Journal of Pharmaceutical and Biomedical Analysis 184, pages 113169.
Crossref
Crossref
Ruojing Yang, Margaret Wu, Songnian Lin, Ravi P. Nargund, Xinghai Li, Theresa Kelly, Lin Yan, Ge Dai, Ying Qian, Qing Dallas-yang, Paul A. Fischer, Yan Cui, Xiaolan Shen, Pei Huo, Danqing Dennis Feng, Mark D. Erion, David E. Kelley & James Mu. (2018) A glucose-responsive insulin therapy protects animals against hypoglycemia. JCI Insight 3:1.
Crossref
Crossref
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon & Han-Wook Yoo. (2017) Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. BMC Medical Genetics 18:1.
Crossref
Crossref
Beom Hee Lee, Ahmed Fathy Abdalla, Jin-Ho Choi, Amal El Beshlawy, Gu-Hwan Kim, Sun Hee Heo, Ahmed Megahed Hassan Megahed, Mona Abdel Latif Elsayed, Tarik El-Sayed Mohammad Barakat, Khaled Mohamed Abd El-Azim Eid, Mona Hassan El-Tagui, Mona Mohamed Hamdy Mahmoud, Ekram Fateen, June-Young Park & Han-Wook Yoo. (2017) A multicenter, open-label, phase III study of Abcertin in Gaucher disease. Medicine 96:45, pages e8492.
Crossref
Crossref
Ana Patrícia Antunes, Mariana Carvalho Dias & Ana Verdelho. 2017. Neuropsychiatric Symptoms of Cognitive Impairment and Dementia. Neuropsychiatric Symptoms of Cognitive Impairment and Dementia
93
139
.
Harold ChenHarold Chen. 2017. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
1201
1212
.
Harold ChenHarold Chen. 2016. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
1
13
.
Ana Trapero & Amadeu Llebaria. (2013) Glucocerebrosidase inhibitors for the treatment of Gaucher disease. Future Medicinal Chemistry 5:5, pages 573-590.
Crossref
Crossref
Catarina Oliveira Miranda, Pedro Brites, Mónica Mendes Sousa & Carla Andreia Teixeira. (2013) Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies. Cell Transplantation 22:2, pages 189-204.
Crossref
Crossref
Harry Ostrer & Karl Skorecki. (2012) The population genetics of the Jewish people. Human Genetics 132:2, pages 119-127.
Crossref
Crossref
Ana Trapero, Meritxell Egido-Gabás & Amadeu Llebaria. (2013) Adamantane substituted aminocyclitols as pharmacological chaperones for Gaucher disease. MedChemComm 4:12, pages 1584.
Crossref
Crossref
Frances M. Platt, Barry Boland & Aarnoud C. van der Spoel. (2012) Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. Journal of Cell Biology 199:5, pages 723-734.
Crossref
Crossref
Gregory M. Pastores. 2012. Swaiman's Pediatric Neurology. Swaiman's Pediatric Neurology
403
451
.
. 2012. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
919
927
.
Robert Katz, Tom Booth, Rikin Hargunani, Peter Wylie & Brian Holloway. (2010) Radiological aspects of Gaucher disease. Skeletal Radiology 40:12, pages 1505-1513.
Crossref
Crossref
Jennifer B Nietupski, Gregory D Hurlbut, Robin J Ziegler, Qiuming Chu, Bradley L Hodges, Karen M Ashe, Mark Bree, Seng H Cheng, Richard J Gregory, John Marshall & Ronald K Scheule. (2011) Systemic Administration of AAV8-α-galactosidase A Induces Humoral Tolerance in Nonhuman Primates Despite Low Hepatic Expression. Molecular Therapy 19:11, pages 1999-2011.
Crossref
Crossref
Guanbo Wang, Rinat R. Abzalimov & Igor A. Kaltashov. (2011) Direct Monitoring of Heat-Stressed Biopolymers with Temperature-Controlled Electrospray Ionization Mass Spectrometry. Analytical Chemistry 83:8, pages 2870-2876.
Crossref
Crossref
Nishad Plakkal, Amuchou Singh Soraisham, Junya Jirapradittha & Alfredo Pinto-Rojas. (2010) Perinatal Lethal Gaucher Disease. The Indian Journal of Pediatrics 78:1, pages 106-108.
Crossref
Crossref
Judd W. Landsberg & Jess Mandel. 2011. Textbook of Pulmonary Vascular Disease. Textbook of Pulmonary Vascular Disease
1061
1081
.
Cedric E. Bobst, John J. Thomas, Paul A. Salinas, Philip Savickas & Igor A. Kaltashov. (2010) Impact of oxidation on protein therapeutics: Conformational dynamics of intact and oxidized acid-β-glucocerebrosidase at near-physiological pH. Protein Science 19:12, pages 2366-2378.
Crossref
Crossref
Emma J. Parkinson-Lawrence, Tetyana Shandala, Mark Prodoehl, Revecca Plew, Glenn N. Borlace & Doug A. Brooks. (2010) Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology. Physiology 25:2, pages 102-115.
Crossref
Crossref
M Rajappa, A Goyal & J Kaur. (2009) Inherited metabolic disorders involving the eye: a clinico-biochemical perspective. Eye 24:4, pages 507-518.
Crossref
Crossref
Gregory M. Pastores. (2010) Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease. BioDrugs 24:1, pages 41-47.
Crossref
Crossref
Tse Siang Kang & Raymond C. Stevens. (2009) Structural aspects of therapeutic enzymes to treat metabolic disorders. Human Mutation 30:12, pages 1591-1610.
Crossref
Crossref
Y Ilan. (2009) Alpha versus beta: are we on the way to resolve the mystery as to which is the endogenous ligand for natural killer T cells?. Clinical and Experimental Immunology 158:3, pages 300-307.
Crossref
Crossref
Yaron Ilan, Deborah Elstein & Ari Zimran. (2009) Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. Immunology & Cell Biology 87:7, pages 514-524.
Crossref
Crossref
Beena Akolkar, Robert Karp, Paul L Kimmel, Catherine McKeon & Rebekah S Rasooly. (2009) Fostering translation of genetics research: an NIDDK perspective. Personalized Medicine 6:5, pages 579-588.
Crossref
Crossref