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Gaucher disease
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Publications and studies (1229)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease (2018-09-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease (2018-08-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients (2018-08-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Audit of Management of Gaucher Disease in Children (2018-07-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease (2018-03-02) ♡
- Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. (2017/12/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology. (2017/12/13) ♡
- Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation. (2017/12/12) ♡
- Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry. (2017/12/01) ♡
- 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. Insights into the structural biology of Gaucher disease. (2017/12/01) ♡
- A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep. (2017/12/01) ♡
- In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene. (2017/12/01) ♡
- Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. (2017/12/01) ♡
- Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. (2017/12/01) ♡
- Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course. (2017/12/01) ♡
- Letter to the Editor on "Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options". (2017/12/01) ♡
- Response to Letter to the Editor on "Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options". (2017/12/01) ♡
- 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's disease in a patient presenting with hip and abdominal pain. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Corrective surgery for kyphosis in a case of Gaucher's disease without history of vertebral compression fractures. (2017/11/27) ♡
- Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. (2017/11/24) ♡
- Splenomegaly - Diagnostic validity, work-up, and underlying causes. (2017/11/14) ♡
- 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 Movements in Parkinson's Disease and Inherited Parkinsonian Syndromes. (2017/11/09) ♡
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. (2017/11/01) ♡
- 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. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. (2017/11/01) ♡
- 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. Management of postoperative inflammation after cataract and complex ocular surgeries: a systematic review and Delphi survey. (2017/11/01) ♡
- Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. (2017/11/01) ♡
- Serum lipid alterations in GBA-associated Parkinson's disease. (2017/11/01) ♡
- 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 defects in ATP13A2 and GBA associated familial Parkinson's disease. (2017/11/01) ♡
- Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment. (2017/11/01) ♡
- 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. The role of epigenetics in lysosomal storage disorders: Uncharted territory. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. (2017/11/01) ♡
- 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. Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature. (2017/11/01) ♡
- 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. A multicenter, open-label, phase III study of Abcertin in Gaucher disease. (2017/11/01) ♡
- Pulmonary involvement in Gaucher disease. (2017/11/01) ♡
- 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. Immunogenicity of glycans on biotherapeutic drugs produced in plant expression systems-The taliglucerase alfa story. (2017/10/31) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease. (2017/10/20) ♡
- 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. Hematopoietic stem cell transplantation for Gaucher disease. (2017/10/18) ♡
- Guillain-Barré Syndrome Associated With Zika Virus Infection in Martinique in 2016: A Prospective Study. (2017/10/16) ♡
- The rise and fall and rise again of 23andMe. (2017/10/11) ♡
- Orthoester functionalized N-guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase. (2017/10/10) ♡
- Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease. (2017/10/04) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase. (2017/10/01) ♡
- 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. Using transgenic plants and modified plant viruses for the development of treatments for human diseases. (2017/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Premature Identical Twin Neonates With Sleep Apnea. (2017/10/01) ♡
- Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation. (2017/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher's Disease with Diffusion-Weighted MRI Findings. (2017/10/01) ♡
- Tuning of β-glucosidase and α-galactosidase inhibition by generation and in situ screening of a library of pyrrolidine-triazole hybrid molecules. (2017/09/29) ♡
- Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations. (2017/09/26) ♡
- A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. (2017/09/08) ♡
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