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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)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. (2020/11/01) ♡
• Outcomes of pregnancies in patients with Gaucher Disease: The experience of a center of excellence on rare metabolic Disease-Gaucher Disease, in Greece. (2020/11/01) ♡
• 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. Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial. (2020/11/01) ♡
• 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 case of type-1 Gaucher disease. (2020/11/01) ♡
• EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review. (2020/11/01) ♡
• Treatable lysosomal storage diseases in the advent of disease-specific therapy. (2020/11/01) ♡
• Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. (2020/11/01) ♡
• Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated? (2020/10/30) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Trends in Glucocerebrosides Research: A Systematic Review. (2020/10/29) ♡
• Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach. (2020/10/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Long-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy. (2020/10/22) ♡
• Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3. (2020/10/21) ♡
• Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease. (2020/10/21) ♡
• Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease. (2020/10/20) ♡
• Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials. (2020/10/18) ♡
• 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 neuroinflammation in Parkinson's disease. (2020/10/17) ♡
• Concise asymmetric synthesis of new enantiomeric C-alkyl pyrrolidines acting as pharmacological chaperones against Gaucher disease. (2020/10/14) ♡
• Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease. (2020/10/14) ♡
• The natural history of type 2 Gaucher disease in the 21st century: A retrospective study. (2020/10/13) ♡
• Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease. (2020/10/13) ♡
• Enzyme Stability in Nanoparticle Preparations Part 1: Bovine Serum Albumin Improves Enzyme Function. (2020/10/09) ♡
• 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. Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential. (2020/10/07) ♡
• 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. Drug repositioning in neurodegeneration: An overview of the use of ambroxol in neurodegenerative diseases. (2020/10/05) ♡
• Synthesis of "All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors. (2020/10/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. (2020/10/01) ♡
• 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. N-Methyl-D-Aspartate (NMDA) receptor modulators: a patent review (2015-present). (2020/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease. (2020/10/01) ♡
• 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. Shoulder Osteonecrosis: Pathogenesis, Causes, Clinical Evaluation, Imaging, and Classification. (2020/10/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review. (2020/09/28) ♡
• Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease. (2020/09/24) ♡
• 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. Lyso-glycosphingolipids: presence and consequences. (2020/09/23) ♡
• Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives? (2020/09/23) ♡
• Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. (2020/09/22) ♡
• 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. A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish. (2020/09/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Mice defective in interferon signaling help distinguish between primary and secondary pathological pathways in a mouse model of neuronal forms of Gaucher disease. (2020/09/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Symmetric, bilateral upper and lower extremity lucent lesions in a patient with Gaucher's disease on enzyme replacement therapy. (2020/09/03) ♡
• Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients. (2020/09/01) ♡
• Effects of sphingolipids overload on red blood cell properties in Gaucher disease. (2020/09/01) ♡
• Enzyme Replacement Therapy for Lysosomal Storage Diseases. (2020/09/01) ♡
• How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations. (2020/09/01) ♡
• Innate immune response in neuronopathic forms of Gaucher disease confers resistance against viral-induced encephalitis. (2020/08/24) ♡
• 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. Zebrafish: A Suitable Tool for the Study of Cell Signaling in Bone. (2020/08/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series. (2020/08/17) ♡
• Behavioral, social and school functioning in children with Pompe disease. (2020/08/05) ♡
• 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. Lytic cell death in metabolic liver disease. (2020/08/01) ♡
• 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. Cardiac involvement in Lysosomal Storage Diseases. (2020/07/01) ♡
• 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. PKU dietary handbook to accompany PKU guidelines. (2020/06/30) ♡
• 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. Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review. (2020/06/01) ♡
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. (2020/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Functional assessment of glucocerebrosidase modulator efficacy in primary patient-derived macrophages is essential for drug development and patient stratification. (2020/05/01) ♡

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