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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)

• Transcranial sonography in carriers of Gaucher disease. (2018/07/06) ♡
• 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. Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case]. (2018/07/01) ♡
• Immunoglobulin Heavy Chain Gene Rearrangements in Patients with Gaucher Disease. (2018/07/01) ♡
• Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes. (2018/06/28) ♡
• 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. [GBA mutations and Parkinson's disease]. (2018/06/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Saudi Infant with Vici Syndrome: Case Report and Literature Review. (2018/06/13) ♡
• Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. (2018/06/01) ♡
• Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. (2018/05/24) ♡
• Genetic and clinical characteristics of Filipino patients with Gaucher disease. (2018/04/05) ♡
• Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight. (2018/04/01) ♡
• Molecular docking and ADME properties of bioactive molecules against human acid-beta-glucosidase enzyme, cause of Gaucher's disease. (2018/03/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Persistent tryptase elevation in a patient with Gaucher disease. (2018/03/01) ♡
• Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. (2018/03/01) ♡
• Recent advances in the diagnosis and management of Gaucher disease. (2018/03/01) ♡
• Photo Essay: Retinal Changes in Type 3 Gaucher Disease. (2018/02/05) ♡
• Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density. (2018/02/01) ♡
• Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies. (2018/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Preface to the special issue on Gaucher disease 2017. (2018/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Recent advances and future challenges in Gaucher disease. (2018/02/01) ♡
• 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. Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy. (2018/02/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Repeated-Dose Oral N-Acetylcysteine in Parkinson's Disease: Pharmacokinetics and Effect on Brain Glutathione and Oxidative Stress. (2018/02/01) ♡
• Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. (2018/02/01) ♡
• Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). (2018/02/01) ♡
• Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. (2018/02/01) ♡
• 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. Emptying the stores: lysosomal diseases and therapeutic strategies. (2018/02/01) ♡
• Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. (2018/02/01) ♡
• Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy. (2018/02/01) ♡
• Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. (2018/02/01) ♡
• Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings. (2018/01/15) ♡
• Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide. (2018/01/03) ♡
• Glucocerebrosidase expression patterns in the non-human primate brain. (2018/01/01) ♡
• Fluorescence-Quenched Substrates for Quantitative Live Cell Imaging of Glucocerebrosidase Activity. (2018/01/01) ♡
• Activity-Based Probes for Glycosidases: Profiling and Other Applications. (2018/01/01) ♡
• Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1. (2018/01/01) ♡
• Signs and symptoms in Gaucher Disease: priority nursing diagnoses. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? (2018/01/01) ♡
• 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. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. (2018/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Enzyme replacement therapies: what is the best option? (2018/01/01) ♡
• 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. Possible Role of Chitin-Like Proteins in the Etiology of Alzheimer's Disease. (2018/01/01) ♡
• MULTI-CRITERIA DECISION ANALYSIS AS A DECISION-SUPPORT TOOL FOR DRUG EVALUATION: A PILOT STUDY IN A PHARMACY AND THERAPEUTICS COMMITTEE SETTING. (2018/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. (2018-10-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease (2018-10-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial (2018-10-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase (2018-10-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease (2018-10-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy (2018-09-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease (2018-09-07) ♡

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