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Gaucher disease
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Publications and studies (1230)
- Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1. (2021/08/20) ♡
- Reconstruction of the Cytokine Signaling in Lysosomal Storage Diseases by Literature Mining and Network Analysis. (2021/08/20) ♡
- 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's Disease in an Adult Female: A Rare Entity. (2021/08/20) ♡
- CRISPR-Cas9-mediated reactivation of the uricase pseudogene in human cells prevents acute hyperuricemia. (2021/08/19) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity. (2021/08/18) ♡
- Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods. (2021/08/16) ♡
- Economic burden and health related quality of life of ultra-rare Gaucher disease in China. (2021/08/11) ♡
- The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China. (2021/08/01) ♡
- Gaucher disease - therapeutic aspects in Romania. (2021/08/01) ♡
- Gaucher disease: an update. (2021/08/01) ♡
- Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report. (2021/08/01) ♡
- Gaucher disease - bone involvement. (2021/08/01) ♡
- New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. (2021/07/30) ♡
- Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome. (2021/07/28) ♡
- Glucosidase Inhibitors Screening in Microalgae and Cyanobacteria Isolated from the Amazon and Proteomic Analysis of Inhibitor Producing Synechococcus sp. GFB01. (2021/07/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease. (2021/07/26) ♡
- [Gaucher disease: achievements and prospects]. (2021/07/23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations. (2021/07/19) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Recapture Lysosomal Enzyme Deficiency via Targeted Gene Disruption in the Human Near-Haploid Cell Line HAP1. (2021/07/15) ♡
- 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 unusual case of T-cell acute lymphoblastic leukemia in a patient with BCR-ABL positive chronic myeloid leukemia and Gaucher disease. (2021/07/14) ♡
- Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease. (2021/07/01) ♡
- 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. CD47 in the Brain and Neurodegeneration: An Update on the Role in Neuroinflammatory Pathways. (2021/06/28) ♡
- 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 of splenectomy for type 1 Gaucher disease combined with splenic infarction]. (2021/06/20) ♡
- 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. Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature. (2021/06/01) ♡
- 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. Sclerotic bone lesions caused by non-infectious and non-neoplastic diseases: a review of the imaging and clinicopathologic findings. (2021/05/01) ♡
- 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. Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. (2021/05/01) ♡
- Four-Month Clinical Status of a Cohort of Patients After Hospitalization for COVID-19. (2021/04/20) ♡
- 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 Movement Disorders. (2021/04/07) ♡
- 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. Sphingolipids metabolism alteration in the central nervous system: Amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. (2021/04/01) ♡
- Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells. (2021/04/01) ♡
- 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. Nutrition in adult patients with selected lysosomal storage diseases. (2021/03/10) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Screening for Gaucher disease among patients with plasma cell dyscrasias. (2021/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Substrate reduction therapy using Genz-667161 reduces levels of pathogenic components in a mouse model of neuronopathic forms of Gaucher disease. (2021/03/01) ♡
- Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (2021/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical Presentation of Primary Stabbing Headache in a Patient With Type 3 Gaucher Disease. (2021/03/01) ♡
- Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases. (2021/02/16) ♡
- 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. Unraveling the mystery of Gaucher bone density pathophysiology. (2021/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease. (2021/02/01) ♡
- 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. Gaucher disease: Basic and translational science needs for more complete therapy and management. (2021/02/01) ♡
- 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. Chaperone therapy for molecular pathology in lysosomal diseases. (2021/01/01) ♡
- Willingness to Vaccinate Children against Influenza after the Coronavirus Disease 2019 Pandemic. (2021/01/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Obstructive sleep apnea, chronic obstructive pulmonary disease and NAFLD: an individual participant data meta-analysis. (2021/01/01) ♡
- 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. Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers. (2021/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The time has come to look for metabolic dysfunction-associated fatty liver disease in adult patients with type 1 Gaucher disease. (2021/01/01) ♡
- 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. Hereditary Disorders of Cardiovascular Calcification. (2021/01/01) ♡
- Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS. (2021/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Assessment of quality of life in Gaucher disease: A methodological approach. (2021/01/01) ♡
- 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. Impaired autophagy: The collateral damage of lysosomal storage disorders. (2021/01/01) ♡
- Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. (2021/01/01) ♡
- Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers. (2021/01/01) ♡
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