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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 (184)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 (33)

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Publications and studies (1230)

• Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy. (2020/05/01) ♡
• Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload. (2020/05/01) ♡
• Expanding the clinical utility of glucosylsphingosine for Gaucher disease. (2020/05/01) ♡
• 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. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. (2020/05/01) ♡
• 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. Hypolipidemic Effects of β-Glucans, Mannans, and Fucoidans: Mechanism of Action and Their Prospects for Clinical Application. (2020/04/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An uncommon cause of early infantile liver disease and raised chitotriosidase. (2020/04/15) ♡
• Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients. (2020/04/01) ♡
• Long-Term Survival of the Cemented Exeter Universal Stem in Patients 50 Years and Younger: An Update on 130 Hips. (2020/04/01) ♡
• Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease. (2020/04/01) ♡
• 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. [Gaucher disease]. (2020/04/01) ♡
• Longevity of total hip arthroplasty implants in patients with Gaucher disease. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Synchronous multiple myeloma and Gaucher disease. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reduction of large soft-tissue Gaucheromas with substrate reduction therapy. (2020/03/01) ♡
• 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. The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. (2020/03/01) ♡
• Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy. (2020/02/01) ♡
• Knowledge and attitudes of Parkinson's disease risk in the Gaucher population. (2020/02/01) ♡
• A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease. (2020/02/01) ♡
• Platelet function defects in patients with Gaucher disease on long term ERT- implications for evaluation at bleeding challenges. (2020/02/01) ♡
• 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. Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse? (2020/02/01) ♡
• Gaucher disease, myelodysplastic syndrome and ICUS. (2020/02/01) ♡
• 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. GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies. (2020/02/01) ♡
• Pulmonary manifestations in young Gaucher disease patients: Phenotype-genotype correlation and radiological findings. (2020/02/01) ♡
• Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism. (2020/02/01) ♡
• 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. Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. (2020/02/01) ♡
• 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. Impact of hepatic and renal impairment on the pharmacokinetics and tolerability of eliglustat therapy for Gaucher disease type 1. (2020/02/01) ♡
• Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease. (2020/02/01) ♡
• Novel compounds that reverse the disease phenotype in Type 2 Gaucher disease patient-derived cells. (2020/01/15) ♡
• Liquid chromatography-tandem mass spectrometric method for the quantification of eliglustat in rat plasma and the application in a pre-clinical study. (2020/01/05) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Gaucher Disease - A Rare Cause of Collodion. (2020/01/01) ♡
• High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. (2020/01/01) ♡
• Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort. (2020/01/01) ♡
• Early diagnosis of Gaucher disease based on bone symptoms. (2020/01/01) ♡
• Desmoid-type fibromatosis in children. Clinical features, treatment response, and long-term follow-up. (2020/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful treatment with enzyme replacement therapy for pelvic fragile fracture in an elderly case of type I Gaucher's disease. (2020/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Therapeutic Exercise to Treat Neuropathic Pain (2020-12-16) ♡
• Metabolic Control of Astrocyte Pathogenic Activity via cPLA2-MAVS. (2019/12/12) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Drug-Drug Interactions Of Amiodarone And Quinidine On The Pharmacokinetics Of Eliglustat In Rats. (2019/12/12) ♡
• Variation in cognitive function over time in Gaucher disease type 3. (2019/12/10) ♡
• 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. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. (2019/12/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists. (2019/12/01) ♡
• Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk? (2019/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. (2019/12/01) ♡
• 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. Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease. (2019/12/01) ♡
• Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. (2019/12/01) ♡
• 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. Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy. (2019/11/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. (2019/11/22) ♡
• GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models. (2019/11/21) ♡
• Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease. (2019/11/21) ♡

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