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Overall assessment of patients with type 1 Gaucher disease: a single-centre's experience.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00019-6
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- Publication type:
- Article
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
- Published in:
- 2022
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- Publication type:
- journal article
Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.
- Published in:
- Nutrients, 2022, v. 14, n. 15, p. 3180, doi. 10.3390/nu14153180
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- Publication type:
- Article
Gaucher Disease for Hematologists.
- Published in:
- Turkish Journal of Hematology, 2022, v. 39, n. 2, p. 136, doi. 10.4274/tjh.galenos.2022.2021.0683
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- Publication type:
- Article
Rare health conditions 40: Gaucher’s disease, Pompe disease, Ellis-Van Creveld syndrome, and Duchenne muscular dystrophy.
- Published in:
- British Journal of Healthcare Assistants, 2020, v. 14, n. 10, p. 500, doi. 10.12968/bjha.2020.14.10.500
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- Publication type:
- Article
Gaucher disease.
- Published in:
- International Journal of Child Health & Human Development, 2020, v. 13, n. 2, p. 161
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- Publication type:
- Article
β-Glycosphingolipids as Mediators of Both Inflammation and Immune Tolerance: A Manifestation of Randomness in Biological Systems.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01143
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- Publication type:
- Article
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A.
- Published in:
- 2018
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- Publication type:
- Case Study
Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.
- Published in:
- 2018
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- Publication type:
- journal article
How we manage Gaucher Disease in the era of choices.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 4, p. 467, doi. 10.1111/bjh.15402
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- Publication type:
- Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1223, doi. 10.1007/s11011-018-0236-0
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- Publication type:
- Article
IMMUNOGLOBULIN HEAVY CHAIN GENE REARRANGEMENTS IN PATIENTS WITH GAUCHER DISEASE.
- Published in:
- Journal of Medical Biochemistry, 2018, v. 37, n. 3, p. 307, doi. 10.1515/jomb-2017-0061
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- Publication type:
- Article
Discussed Poster Abstracts.
- Published in:
- 2018
- Publication type:
- Abstract
Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.
- Published in:
- Molecules, 2018, v. 23, n. 4, p. 927, doi. 10.3390/molecules23040927
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- Publication type:
- Article
PATIENTS WITH GAUCHER DISEASE: RESULTS OF LONG FOLLOW UP.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, v. 40, n. 1, p. S23
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- Publication type:
- Article
FROM SYMPTOMS AND SIGNS TO DIAGNOSIS IN A RARE DISEASE, TYPE I GAUCHER DISEASE.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.
- Published in:
- 2018
- By:
- Publication type:
- journal article
α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
- Published in:
- Molecular Neurodegeneration, 2018, v. 12, p. 1, doi. 10.1186/s13024-017-0233-5
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- Publication type:
- Article
Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 27, doi. 10.1002/mgg3.339
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- Publication type:
- Article
QUALITY OF LIFE OF PATIENTS WITH GAUCHER DISEASE.
- Published in:
- Journal of Nursing UFPE / Revista de Enfermagem UFPE, 2017, v. 11, n. 11, p. 4282, doi. 10.5205/reuol.23542-49901-1-ED.1111201702
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- Publication type:
- Article
Immunogenicity of glycans on biotherapeutic drugs produced in plant expression systems—The taliglucerase alfa story.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0186211
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- Publication type:
- Article
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 3, p. 444, doi. 10.1002/mdc3.12406
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- Publication type:
- Article
Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170268
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- Publication type:
- Article
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
The Spectrum of Neurological Manifestations Associated with Gaucher Disease.
- Published in:
- Diseases, 2017, v. 5, n. 1, p. 10, doi. 10.3390/diseases5010010
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- Publication type:
- Article
Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168135
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- Publication type:
- Article
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Cellular Uptake of Glucocerebrosidase in Gaucher Patients Receiving Enzyme Replacement Treatment.
- Published in:
- 2016
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- Publication type:
- journal article
A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.
- Published in:
- European Journal of Haematology, 2016, v. 96, n. 4, p. 352, doi. 10.1111/ejh.12596
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- Publication type:
- Article
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 3, p. 200, doi. 10.1002/acn3.292
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- Publication type:
- Article
Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects).
- Published in:
- Pakistan Journal of Medical Sciences, 2016, v. 32, n. 2, p. 319, doi. 10.12669/pjms.322.9316
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- Publication type:
- Article
Profile of eliglustat tartrate in the management of Gaucher disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Critical appraisal of observational studies on enzyme replacement therapy for Gaucher's Disease.
- Published in:
- JBES: Brazilian Journal of Health Economics / Jornal Brasileiro de Economia da Saúde, 2015, v. 7, n. 3, p. 148
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- Publication type:
- Article
TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION - CASE REPORT.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 3, p. 293, doi. 10.37897/rjp.2015.3.12
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- Publication type:
- Article
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 3, p. 207, doi. 10.1016/j.ejmhg.2015.02.001
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- Publication type:
- Article
Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128986
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- Publication type:
- Article
Therapeutic potential of resveratrol for the treatment of type III Gaucher disease.
- Published in:
- Neurology Asia, 2015, v. 20, n. 1, p. 43
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- Publication type:
- Article
Gaucher's disease oral therapy gets nod from FDA.
- Published in:
- Nature Biotechnology, 2014, v. 32, n. 10, p. 970, doi. 10.1038/nbt1014-970
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- Publication type:
- Article
Glucocerebrosidase is shaking up the synucleinopathies.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1304, doi. 10.1093/brain/awu002
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- Publication type:
- Article
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-51
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- Publication type:
- Article
Novel Therapies.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2014, v. 12, n. 1, p. 26
- Publication type:
- Article
Target identification: Targeting neuronal loss in Gaucher's disease.
- Published in:
- Nature Reviews Drug Discovery, 2014, v. 13, n. 3, p. 178, doi. 10.1038/nrd4270
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- Publication type:
- Article
RIPK3 as a potential therapeutic target for Gaucher's disease.
- Published in:
- Nature Medicine, 2014, v. 20, n. 2, p. 204, doi. 10.1038/nm.3449
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- Publication type:
- Article
Novel Therapies.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 122
- Publication type:
- Article
Glycosylation and functionality of recombinant ß-glucocerebrosidase from various production systems.
- Published in:
- Bioscience Reports, 2013, v. 33, n. 5, p. 771, doi. 10.1042/BSR20130081
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- Publication type:
- Article
Gauchers disease - a reappraisal of hematopoietic stem cell transplantation.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- Opinion