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Gaucher disease
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Publications (1051)
- Commentary or editorialiAn expert's opinion or commentary, not new research. Microglia orchestrate neuroinflammation. (2022/08/22) ♡
- 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. Who to Enroll in Parkinson Disease Prevention Trials? The Case for Genetically At-Risk Cohorts. (2022/08/16) ♡
- Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy. (2022/08/16) ♡
- Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease. (2022/08/16) ♡
- Rare disease patients in India are rarely involved in international orphan drug trials. (2022/08/15) ♡
- Comorbidity of long COVID and psychiatric disorders after a hospitalisation for COVID-19: a cross-sectional study. (2022/08/11) ♡
- Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation. (2022/08/06) ♡
- The Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial OXPHOS. (2022/08/03) ♡
- Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment. (2022/08/03) ♡
- 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. Neuronopathic Gaucher disease: Beyond lysosomal dysfunction. (2022/08/03) ♡
- Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey. (2022/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations"? (2022/08/01) ♡
- β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration. (2022/07/29) ♡
- 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. [Pharmacological chaperone therapy for the treatment of inborn errors of metabolism]. (2022/07/20) ♡
- Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan. (2022/07/19) ♡
- A versatile fluorescence-quenched substrate for quantitative measurement of glucocerebrosidase activity within live cells. (2022/07/19) ♡
- Neuronal activity induces glucosylceramide that is secreted via exosomes for lysosomal degradation in glia. (2022/07/15) ♡
- Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation. (2022/07/14) ♡
- 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) ♡
- 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) ♡
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