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Gaucher disease
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Publications and studies (1229)
- Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation. (2022/07/13) ♡
- Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells. (2022/07/11) ♡
- 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. GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders. (2022/07/02) ♡
- Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up. (2022/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bone disease in early detected Gaucher Type I disease: A case report. (2022/06/26) ♡
- Platelet Activation and Reactivity in a Large Cohort of Patients with Gaucher Disease. (2022/06/01) ♡
- Pre-existing humoral immune comebacks control the development of the severe form of coronavirus disease 2019 in Gaucher patients. (2022/06/01) ♡
- Hematopoietic Stem Cell Transplantation is a cost-effective alternative to enzyme replacement therapy in Gaucher Disease. (2022/05/20) ♡
- Abdominal lymphadenopathy in children with Gaucher disease: Relation to disease severity and glucosylsphingosine. (2022/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease. (2022/04/08) ♡
- Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease. (2022/04/01) ♡
- 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. Eye motor manifestations in children with neurometabolic disorders. (2022/04/01) ♡
- Retinal thinning in phenylketonuria and Gaucher disease type 3. (2022/04/01) ♡
- A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation. (2022/04/01) ♡
- A scientific pharmacognosy on Gaucher's disease: an in silico analysis. (2022/04/01) ♡
- Comparison of Transcranial Sonography and [(18) F]-Fluorodopa PET Imaging in GBA1 Mutation Carriers. (2022/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report. (2022/03/01) ♡
- Intermittent Hypoxia Rewires the Liver Transcriptome and Fires up Fatty Acids Usage for Mitochondrial Respiration. (2022/02/18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. (2022/02/01) ♡
- Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease. (2022/02/01) ♡
- Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. (2022/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Approach to Total Hip Arthroplasty in Gauchers Disease with Pre-Existing Spinopelvic Fusion. (2022/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. PCA-LBD in Gaucher disease type 1: a case description. (2022/01/01) ♡
- 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. Angiotensin converting enzyme (ACE). (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient. (2022/01/01) ♡
- An infant with type II Gaucher disease treated with enzyme replacement therapy. (2022/01/01) ♡
- Clinical experience with orphan drugs for rare metabolic diseases. (2022/01/01) ♡
- 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. GBA1 and The Immune System: A Potential Role in Parkinson's Disease? (2022/01/01) ♡
- Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry. (2022/01/01) ♡
- Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. (2022/01/01) ♡
- [Pulmonary storage]. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) (2022-10-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTs (2022-10-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Human Placental-Derived Stem Cell Transplantation (2022-10-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Eliglustat on Gaucher Disease Type IIIB (2022-09-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease (2022-07-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies (2022-07-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A National Study in Patients With Unexplained Splenomegaly (2022-04-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease (2022-02-01) ♡
- 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. Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach. (2021/12/30) ♡
- 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. Lipotoxicity Downstream of α-Synuclein Imbalance: A Relevant Pathomechanism in Synucleinopathies? (2021/12/28) ♡
- 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. Glucocerebrosidase dysfunction in neurodegenerative disease. (2021/12/22) ♡
- Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients. (2021/12/20) ♡
- A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm. (2021/12/20) ♡
- Pathological α-syn aggregation is mediated by glycosphingolipid chain length and the physiological state of α-syn in vivo. (2021/12/14) ♡
- 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 cases of neuronopathic form of Gaucher disease - diagnostic difficulties. (2021/12/14) ♡
- Putative antigenic proteins identified by comparative and subtractive reverse vaccinology in necrotic enteritis-causing Clostridium perfringens isolated from broiler chickens. (2021/12/13) ♡
- 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. Alterations in Lysosome Homeostasis in Lipid-Related Disorders: Impact on Metabolic Tissues and Immune Cells. (2021/12/10) ♡
- 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. Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. (2021/12/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I. (2021/12/06) ♡
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