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Gaucher disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest level of evidence only (34)Meta-analysis (4)Treatment guideline (3)Systematic review (11)Phase 3 study (11)Randomized trial (5)Clinical trial (183)Review article (180)Early study (phase 1 or 2) (18)Case report (134)Laboratory or animal research (31)Commentary or editorial (32)Retracted publication (1) Studies currently recruiting participants only (32)

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Publications and studies (1229)

• Production of recombinant human acid β-glucosidase with high mannose-type N-glycans in rice gnt1 mutant for potential treatment of Gaucher disease. (2019/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Two siblings with Gaucher type 3c: different clinical presentations. (2019/05/27) ♡
• Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease. (2019/05/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coexistence of Gaucher Disease and severe congenital neutropenia. (2019/05/01) ♡
• Healthcare resource utilization and cost of care for Gaucher patients in Iran. (2019/04/09) ♡
• Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease. (2019/04/01) ♡
• An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. (2019/04/01) ♡
• Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders. (2019/03/01) ♡
• The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. (2019/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neurological effects of glucocerebrosidase gene mutations. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. (2019/03/01) ♡
• Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1. (2019/03/01) ♡
• Generation of two iPSC lines derived from two unrelated patients with Gaucher disease. (2019/03/01) ♡
• Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy. (2019/02/01) ♡
• Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case. (2019/01/01) ♡
• Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations. (2019/01/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. (2019/01/01) ♡
• Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. (2019/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine. (2019/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease. (2019/01/01) ♡
• Personalized nutrition in ageing society: redox control of major-age related diseases through the NutRedOx Network (COST Action CA16112). (2019/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Auditory brainstem response. (2019/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Quality Control and Downstream Processing of Therapeutic Enzymes. (2019/01/01) ♡
• Down-regulation of Regulatory T-cells in Children With Gaucher Disease Under Enzyme Replacement Therapy. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease (2019-11-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease (2019-09-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease (2019-08-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease (2019-08-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical and Pathophysiological Investigations Into Erdheim Chester Disease (2019-07-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism (2019-04-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Miglustat on Gaucher Disease Type IIIB (2019-03-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker Analysis for GBA Associated Parkinson's Disease (2019-01-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening of Lysosomal Storage Disorders Diseases in Minority Groups (2019-01-22) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages. (2018/12/24) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pathological Mechanisms and Clinical Aspects of GBA1 Mutation-Associated Parkinson's Disease. (2018/12/21) ♡
• Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. (2018/12/18) ♡
• Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease. (2018/12/15) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. From Vascular Smooth Muscle Cells to Folliculogenesis: What About Vasorin? (2018/12/04) ♡
• Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases. (2018/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Exploring genetic modifiers of Gaucher disease: The next horizon. (2018/12/01) ♡
• The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress. (2018/12/01) ♡
• Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. (2018/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Chitin, chitinases, and chitin lectins: Emerging roles in human pathophysiology. (2018/12/01) ♡
• Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. (2018/12/01) ♡

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