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Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
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- Movement Disorders, 2011, v. 26, n. 7, p. 1341, doi. 10.1002/mds.23595
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- Article
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
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- American Journal of Hematology, 2024, v. 99, n. 7, p. 1396, doi. 10.1002/ajh.27302
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- Article
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
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- American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
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- Article
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.
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- American Journal of Hematology, 2019, v. 94, n. 1, p. 29, doi. 10.1002/ajh.25300
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- Article
Rapid intravenous infusion of velaglucerase‐alfa in adults with type 1 Gaucher disease.
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- American Journal of Hematology, 2018, v. 93, n. 9, p. E246, doi. 10.1002/ajh.25205
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- Article
Glucosylsphingosine is a reliable response biomarker in Gaucher disease.
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- American Journal of Hematology, 2018, v. 93, n. 6, p. E140, doi. 10.1002/ajh.25074
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- Article
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).
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- American Journal of Hematology, 2018, v. 93, n. 2, p. 205, doi. 10.1002/ajh.24957
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- Article
Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.
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- American Journal of Hematology, 2016, v. 91, n. 7, p. 656, doi. 10.1002/ajh.24369
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- Article
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.
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- American Journal of Hematology, 2016, v. 91, n. 7, p. 661, doi. 10.1002/ajh.24399
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- Article
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
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- American Journal of Hematology, 2015, v. 90, p. S12, doi. 10.1002/ajh.24063
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- Article
Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.
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- American Journal of Hematology, 2015, v. 90, n. 7, p. 577, doi. 10.1002/ajh.24040
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- Article
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.
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- American Journal of Hematology, 2015, v. 90, n. 7, p. 584, doi. 10.1002/ajh.24012
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- Article
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
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- American Journal of Hematology, 2015, v. 90, n. 7, p. 592, doi. 10.1002/ajh.24007
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- Article
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
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- American Journal of Hematology, 2013, v. 88, n. 3, p. 166, doi. 10.1002/ajh.23381
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- Article
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
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- American Journal of Hematology, 2013, v. 88, n. 3, p. 172, doi. 10.1002/ajh.23383
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- Article
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
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- American Journal of Hematology, 2013, v. 88, n. 3, p. 179, doi. 10.1002/ajh.23382
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- Article
Enzyme replacement therapy for mild patients with Gaucher disease.
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- American Journal of Hematology, 2009, v. 84, n. 4, p. 202, doi. 10.1002/ajh.21369
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- Article
Using the International Gaucher Disease Registry data: Can we devise a virtuous circle for treated patients?
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- American Journal of Hematology, 2008, v. 83, n. 12, p. 887, doi. 10.1002/ajh.21306
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- Article
Rheological determinants in patients with Gaucher disease and internal inflammation.
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- American Journal of Hematology, 2004, v. 75, n. 4, p. 190, doi. 10.1002/ajh.20011
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- Article
D-dimer assay in Gaucher disease: Correlation with severity of bone and lung involvement.
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- American Journal of Hematology, 2003, v. 73, n. 4, p. 236, doi. 10.1002/ajh.10361
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- Article
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.
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- Systematic Reviews, 2017, v. 6, p. 1, doi. 10.1186/s13643-017-0483-x
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- Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.
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- Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342
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- Article
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
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- 2007
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- Publication type:
- journal article
Carrier Screening for Gaucher Disease.
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- JAMA: Journal of the American Medical Association, 2007, v. 298, n. 11, p. 1281, doi. 10.1001/jama.298.11.1281
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- Article
Molecular Aspects of Gaucher Disease.
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 352, doi. 10.1159/000112185
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- Article
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.
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- 2018
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- Publication type:
- journal article
Dental profile of patients with Gaucher disease.
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- BMC Oral Health, 2003, v. 3, p. 4, doi. 10.1186/1472-6831-3-4
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- Article
Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
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- Rheumatology International, 2008, v. 28, n. 9, p. 873, doi. 10.1007/s00296-008-0550-7
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- Article
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.
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- Biologics: Targets & Therapy, 2009, v. 3, p. 407
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- Article
Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience.
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- Advances in Hematology, 2013, p. 1, doi. 10.1155/2013/151506
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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
Effect of Ozone on Red Blood Cell Enzymes and Intermediates.
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- Acta Haematologica, 1999, v. 102, n. 3, p. 148, doi. 10.1159/000040990
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- Article
Pulmonary Hypertension in Two Patients with Type I Gaucher Disease while on Alglucerase Therapy.
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- Acta Haematologica, 1997, v. 98, n. 1, p. 47, doi. 10.1159/000203562
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- Article
High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6732, doi. 10.3390/ijms24076732
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- Article
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3945, doi. 10.3390/ijms24043945
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- Article
Brain-Derived Neurotrophic Factor (BDNF) Is Associated with Platelet Activity and Bleeding Tendency in Patients with Gaucher Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13982, doi. 10.3390/ijms232213982
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- Article
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12211, doi. 10.3390/ijms232012211
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- Article
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1627, doi. 10.3390/ijms23031627
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- Article
Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7699, doi. 10.3390/ijms22147699
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- Article
GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2532, doi. 10.3390/ijms22052532
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- Article
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7159, doi. 10.3390/ijms21197159
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- Article
Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7027, doi. 10.3390/ijms21197027
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- Article
Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 12, p. 3033, doi. 10.3390/ijms20123033
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- Article
Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: What have we learned?
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- Prenatal Diagnosis, 2010, v. 30, n. 10, p. 924, doi. 10.1002/pd.2584
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- Article
Gaucher Disease and Bone Manifestations.
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- Calcified Tissue International, 2014, v. 95, n. 6, p. 477, doi. 10.1007/s00223-014-9923-y
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- Article
Platelet function abnormalities in Gaucher disease patients.
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- American Journal of Hematology, 1999, v. 61, n. 2, p. 103, doi. 10.1002/(SICI)1096-8652(199906)61:2<103::AID-AJH5>3.0.CO;2-V
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- Article
Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 gaucher patients.
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- American Journal of Hematology, 1997, v. 55, n. 1, p. 28, doi. 10.1002/(SICI)1096-8652(199705)55:1<28::AID-AJH5>3.0.CO;2-5
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- Article
HCG contamination of alglucerase: Clinical implications in low-dose regimen.
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- American Journal of Hematology, 1994, v. 47, n. 3, p. 235, doi. 10.1002/ajh.2830470317
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- Article
Screening for Gaucher Disease: New Challenges.
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- Israel Medical Association Journal, 2014, v. 16, n. 11, p. 723
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- Article
Ozone Administration Reduces Reperfusion Injury in an Isolated Rat Heart Model.
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- Journal of Cardiac Surgery, 2007, v. 22, n. 4, p. 339, doi. 10.1111/j.1540-8191.2007.00419.x
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- Article