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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)

• Upregulation of NFE2L1 reduces ROS levels and α-synuclein aggregation caused by GBA1 knockdown. (2024/11/19) ♡
• 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. Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder. (2024/11/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta. (2024/11/16) ♡
• Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain. (2024/11/15) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. (2024/11/13) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model. (2024/11/08) ♡
• Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers. (2024/11/08) ♡
• Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis. (2024/11/07) ♡
• Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration. (2024/11/01) ♡
• Skin α-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease. (2024/11/01) ♡
• A machine learning model for early diagnosis of type 1 Gaucher disease using real-life data. (2024/11/01) ♡
• Chronic intermittent hypoxia triggers cardiac fibrosis: Role of epididymal white adipose tissue senescent remodeling? (2024/11/01) ♡
• Striking and widespread microglial activation in the brains of Southdown lambs with type II glucocerebrosidosis (neuronopathic Gaucher disease). (2024/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gaucher-like crystal-storing histiocytosis associated with kappa chain myeloma: A case report with next generation sequencing study. (2024/11/01) ♡
• 6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols. (2024/11/01) ♡
• Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach. (2024/10/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of adult Gaucher disease mainly initially manifested as hepatosplenomegaly. (2024/10/20) ♡
• High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease. (2024/10/15) ♡
• 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. Oncological Aspects of Lysosomal Storage Diseases. (2024/10/08) ♡
• Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease. (2024/10/07) ♡
• Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey. (2024/10/03) ♡
• Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients. (2024/10/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The natural history of Gaucher disease type 1 in 31 patients over a median of 15 years: a retrospective study. (2024/10/01) ♡
• 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. Advances in diagnosis and subtyping of Gaucher disease & assessment and monitoring of neurological symptoms. (2024/10/01) ♡
• 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. Lysosomal storage disorders - Fabry disease and Gaucher disease. (2024/10/01) ♡
• 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. Old disease-New reflections: Gaucher, immunity, and inflammation. (2024/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report. (2024/09/28) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences. (2024/09/27) ♡
• Gaucher disease in Brazil: a comprehensive 16 year retrospective study on survival, cost, and treatment insights. (2024/09/26) ♡
• 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. Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease. (2024/09/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report. (2024/09/11) ♡
• 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 Report on Invasive Mucormycosis Involving the Maxillary Region, Brain, and Chest. (2024/09/07) ♡
• Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis. (2024/09/01) ♡
• Synthesis and glycosidase inhibition of 3,4,5-trihydroxypiperidines using a one-pot amination-cyclisation cascade reaction. (2024/09/01) ♡
• Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype. (2024/09/01) ♡
• Upregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases. (2024/09/01) ♡
• 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 provides a unique window into Parkinson disease pathogenesis. (2024/09/01) ♡
• 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. Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review. (2024/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Efficacy of an AAV vector encoding a thermostable form of glucocerebrosidase in alleviating symptoms in a Gaucher disease mouse model. (2024/09/01) ♡
• 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. Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems. (2024/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report. (2024/09/01) ♡
• Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients - ten years of experience in a single center. (2024/09/01) ♡
• Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals. (2024/08/27) ♡
• 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 delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly. (2024/08/23) ♡
• A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases. (2024/08/20) ♡
• Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease. (2024/08/15) ♡
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre. (2024/08/13) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report. (2024/08/09) ♡
• Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients. (2024/08/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3. (2024/08/01) ♡

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