Works about GAUCHER'S disease
Results: 960
Obstacles to Early Diagnosis of Gaucher Disease.
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- Therapeutics & Clinical Risk Management, 2025, v. 21, p. 93, doi. 10.2147/TCRM.S388266
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- Article
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.
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- Malaysian Journal of Medical Sciences, 2017, v. 24, n. 5, p. 112, doi. 10.21315/mjms2017.24.5.13
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- Article
Bone manifestations of Gaucher's disease in Mexican patients.
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- Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 349
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- Article
Manifestaciones óseas en enfermedad de Gaucher entre pacientes mexicanos.
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- Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 351
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- Article
Phosphorus Dendrimers for Metal‐Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher Disease.
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- Chemistry - A European Journal, 2023, v. 29, n. 53, p. 1, doi. 10.1002/chem.202301210
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- Article
Light‐Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones.
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- Chemistry - A European Journal, 2023, v. 29, n. 19, p. 1, doi. 10.1002/chem.202203841
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- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
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- Angewandte Chemie, 2022, v. 134, n. 38, p. 1, doi. 10.1002/ange.202207974
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- Article
Novel β‐Glucocerebrosidase Activators That Bind to a New Pocket at a Dimer Interface and Induce Dimerization.
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- Angewandte Chemie, 2021, v. 133, n. 10, p. 5496, doi. 10.1002/ange.202013890
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- Article
Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null RecI Mutations.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 240, doi. 10.2350/09-11-0744-CR.1
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- Article
Bone Marker Alterations in Patients with Type 1 Gaucher Disease.
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- Calcified Tissue International, 2003, v. 72, n. 3, p. 185, doi. 10.1007/s00223-001-2072-0
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- Article
A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate.
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- Glycobiology, 2023, v. 33, n. 2, p. 88, doi. 10.1093/glycob/cwac081
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- Article
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
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- Glycobiology, 2021, v. 31, n. 11, p. 1416, doi. 10.1093/glycob/cwab046
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- Article
Gaucher Disease and Dental Approaches.
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- European Journal of Therapeutics, 2021, v. 27, n. 4, p. 318, doi. 10.5152/eurjther.2021.21025
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- Article
An Unusual Presentation of Gaucher's Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation.
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- Collegium Antropologicum, 2010, v. 34, n. 1, p. 275
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- Article
Editorial for Brain Sciences Special Issue: "Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping".
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- 2019
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- Publication type:
- Editorial
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.
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- Brain Sciences (2076-3425), 2019, v. 9, n. 2, p. 30, doi. 10.3390/brainsci9020030
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- Article
UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.
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- Biomolecules (2218-273X), 2024, v. 14, n. 12, p. 1612, doi. 10.3390/biom14121612
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- Publication type:
- Article
Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
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- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 842, doi. 10.3390/biom14070842
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- Article
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
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- Biomolecules (2218-273X), 2023, v. 13, n. 8, p. 1227, doi. 10.3390/biom13081227
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- Article
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
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- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 644, doi. 10.3390/biom13040644
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- Publication type:
- Article
A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach.
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- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 436, doi. 10.3390/biom13030436
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- Publication type:
- Article
Lipotoxicity Downstream of α-Synuclein Imbalance: A Relevant Pathomechanism in Synucleinopathies?
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- Biomolecules (2218-273X), 2022, v. 12, n. 1, p. 40, doi. 10.3390/biom12010040
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- Article
Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease.
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- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 289, doi. 10.3390/biom11020289
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- Article
A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish.
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- Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1352, doi. 10.3390/biom10091352
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- Article
Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease.
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- Frontiers in Endocrinology, 2022, v. 13, p. 01, doi. 10.3389/fendo.2022.1029130
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- Article
Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.
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- 2024
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- Case Study
Gaucher's Disease in Adults.
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- 2011
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- Case Study
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease.
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- 2017
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- Publication type:
- Case Study
IS IT GAUCHER'S DISEASE OR NIEMANN-PICK'S DISEASE?
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- 2018
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- Publication type:
- Case Study
Diagnostic Outcomes of Pancytopenia after Bone Marrow Examination in Lady Reading Hospital, Peshawar.
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- Indian Journal of Public Health Research & Development, 2019, v. 10, n. 9, p. 1875, doi. 10.5958/0976-5506.2019.02728.1
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- Article
The Association between E326K of GBA and the Risk of Parkinson’s Disease.
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- Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/1048084
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- Article
Aortic calcification in Gaucher disease: a case report.
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- Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995
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- Article
QUALITY OF LIFE OF PATIENTS WITH GAUCHER DISEASE.
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- Journal of Nursing UFPE / Revista de Enfermagem UFPE, 2017, v. 11, n. 11, p. 4282, doi. 10.5205/reuol.23542-49901-1-ED.1111201702
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- Article
Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease.
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- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2023, v. 59, p. 1, doi. 10.1186/s41983-023-00743-2
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- Article
Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review.
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- Journal of Gastrointestinal & Liver Diseases, 2023, v. 32, n. 1, p. 86, doi. 10.15403/jgld-4752
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- Article
Liver Damage in a Patient with Gaucher's Disease Type 1 and Alpha-1 Antitrypsin Deficiency: a Potential Epigenetic Effect?
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- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 1, p. 121, doi. 10.15403/jgld.2014.1121.281.gau
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- Article
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1.
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- JAMA: Journal of the American Medical Association, 2015, v. 313, n. 7, p. 695, doi. 10.1001/jama.2015.459
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- Article
Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
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- Acta Neurologica Scandinavica, 2007, v. 115, n. 4, p. 275, doi. 10.1111/j.1600-0404.2006.00774.x
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- Article
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?
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- Acta Haematologica, 2018, v. 139, n. 4, p. 240, doi. 10.1159/000489251
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- Article
Thrombocytosis Associated with Enzyme Replacement Therapy in Gaucher Disease.
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- Acta Haematologica, 2002, v. 108, n. 2, p. 94, doi. 10.1159/000064744
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- Article
Three Gaucher-Disease-Producing Mutations in a Patient with Gaucher Disease: Mechanism and Diagnostic Implications.
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- Acta Haematologica, 2000, v. 104, n. 2/3, p. 103, doi. 10.1159/000039760
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- Article
Six New Gaucher Disease Mutations.
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- Acta Haematologica, 1998, v. 99, n. 2, p. 80, doi. 10.1159/000040815
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- Publication type:
- Article
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
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- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227077
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- Article
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease.
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- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0217780
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- Article
Gaucher Disease: An overview in relation to cases treated in Al Emamayn Al Khadimayn Medical City, Rare disease unit.
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- EurAsian Journal of Biosciences, 2020, v. 14, n. 1, p. 2279
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- Publication type:
- Article
TOXICOLOGICAL RESPONSES OF RED-BACKED SALAMANDERS (PLETHODON CINEREUS) TO SUBCHRONIC SOIL EXPOSURES OF 2,4,6-TRINITROTOLUENE.
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- Environmental Toxicology & Chemistry, 2008, v. 27, n. 6, p. 1393, doi. 10.1897/07-547.1
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- Article
Genzyme resumes shipping as Sanofi-aventis hovers.
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- Nature Biotechnology, 2010, v. 28, n. 10, p. 994, doi. 10.1038/nbt1010-994c
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- Article
Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study.
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- 2019
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- Letter to the Editor
Neurological features in Gaucher’s disease during enzyme replacement therapy.
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- Acta Paediatrica, 2001, v. 90, n. 2, p. 229, doi. 10.1080/080352501300049587
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- Article
Clinical significance of Gaucher cells in cerebrospinal fluid.
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- Acta Paediatrica, 1999, v. 88, n. 1, p. 104, doi. 10.1111/j.1651-2227.1999.tb01280.x
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- Publication type:
- Article