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Gaucher disease
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Publications and studies (1230)
- 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. Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence. (2025/10/28) ♡
- 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. French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease. (2025/10/27) ♡
- 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 syndrome: report of six cases and review of genetic mutations among Iranian patients. (2025/10/17) ♡
- Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience. (2025/10/17) ♡
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. (2025/10/16) ♡
- Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease. (2025/10/16) ♡
- A pathogenic alpha synuclein variant exacerbates disease progression in a neuron-specific Gba-KO mouse. (2025/10/15) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Microbiome-gut-heart axis in cardiac complications of Gaucher disease type 3. (2025/10/14) ♡
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. (2025/10/13) ♡
- Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty. (2025/10/10) ♡
- 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. Central Roles of Glucosylceramide in Driving Cancer Pathogenesis. (2025/10/10) ♡
- Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study. (2025/10/04) ♡
- Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania. (2025/10/03) ♡
- Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. (2025/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Heterogeneous bone manifestations in a patient with Gaucher disease demonstrated by (18)F-FDG positron emission tomography/computed tomography (PET/CT) and Al(18)F-FAPI-04 PET/CT: a case description. (2025/10/01) ♡
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes. (2025/09/27) ♡
- Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey. (2025/09/25) ♡
- Serum hepcidin as a biomarker of treatment response in Gaucher disease. (2025/09/24) ♡
- Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series. (2025/09/24) ♡
- Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening. (2025/09/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China. (2025/09/22) ♡
- 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. Periodontal Manifestations of Systemic Diseases. (2025/09/16) ♡
- In silico biophysics and rheology of blood and red blood cells in Gaucher Disease. (2025/09/10) ♡
- 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. Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population. (2025/09/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease. (2025/09/09) ♡
- Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates. (2025/09/09) ♡
- Pre-retinal deposits in Type 1 Gaucher disease. (2025/09/08) ♡
- Clinical features and infection risks of Chinese children with different types of Gaucher disease. (2025/09/05) ♡
- MyGauch(TM): a patient-centered digital health app for Gaucher disease. (2025/09/04) ♡
- A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction. (2025/09/02) ♡
- Multiorgan fibrosis in Gaucher disease type I: an unmet goal of enzyme replacement therapy. (2025/09/01) ♡
- Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis. (2025/09/01) ♡
- Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease. (2025/09/01) ♡
- Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study. (2025/08/28) ♡
- Extinction of Contextual Fear Memory and Passive Avoidance Memory and Subsequent Anxiety-like and Depressive-like Behavior of A53T and A53T-L444P Mice. (2025/08/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: A case of surgical and enzyme replacement therapy for type I Gaucher disease complicating femoral shaft pathological fracture. (2025/08/22) ♡
- Glucosylsphingosine affects mitochondrial function in a neuronal cell model. (2025/08/21) ♡
- Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation. (2025/08/18) ♡
- 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. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. (2025/08/16) ♡
- Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure. (2025/08/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations. (2025/08/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice. (2025/08/01) ♡
- 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. Epigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases. (2025/07/25) ♡
- Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1. (2025/07/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cardiac Sympathetic Denervation Mitigated Ischemic Cardiomyopathy Progression in a Rat Model of Sleep Apnea. (2025/06/03) ♡
- The number and frequency of mucosal-associated invariant T (MAIT), γδ T, and innate lymphoid cells (ILCs) altered in patients with type I Gaucher disease. (2025/05/01) ♡
- 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. Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. (2025/05/01) ♡
- Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy. (2025/03/30) ♡
- 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 case of neonatal-onset Gaucher disease type 3b: A case report. (2025/03/29) ♡
- Insights into skeletal involvement in adult Gaucher disease: a single-center experience. (2025/03/01) ♡
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