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Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1439236
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- Publication type:
- Article
Results from a 9-year Intensive Safety Surveillance Scheme (IS<sup>3</sup>) in miglustat (Zavesca<sup>®</sup>)-treated patients.
- Published in:
- Pharmacoepidemiology & Drug Safety, 2015, v. 24, n. 3, p. 329, doi. 10.1002/pds.3760
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- Publication type:
- Article
Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.
- Published in:
- Pharmacoepidemiology & Drug Safety, 2009, v. 18, n. 9, p. 770, doi. 10.1002/pds.1779
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- Publication type:
- Article
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
- Published in:
- Movement Disorders, 2013, v. 28, n. 2, p. 232, doi. 10.1002/mds.25248
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- Publication type:
- Article
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 7, p. 584, doi. 10.1002/ajh.24012
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- Publication type:
- Article
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 7, p. 592, doi. 10.1002/ajh.24007
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- Publication type:
- Article
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 3, p. 172, doi. 10.1002/ajh.23383
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- Publication type:
- Article
Enzyme, substrate, and myeloma in Gaucher disease.
- Published in:
- American Journal of Hematology, 2009, v. 84, n. 4, p. 199, doi. 10.1002/ajh.21375
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- Publication type:
- Article
Coombs-positive Paroxysmal Nocturnal Haemoglobinuria.
- Published in:
- Oxford Medical Case Reports, 2020, v. 20, n. 3, p. 1, doi. 10.1093/omcr/omz125
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- Publication type:
- Article
Soluble mannose receptor: A potential biomarker in Gaucher disease.
- Published in:
- European Journal of Haematology, 2024, v. 112, n. 5, p. 794, doi. 10.1111/ejh.14171
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- Publication type:
- Article
Cytomegalovirus reactivation after bortezomib treatment for multiple myeloma and light chain amyloidosis.
- Published in:
- European Journal of Haematology, 2020, v. 104, n. 3, p. 230, doi. 10.1111/ejh.13366
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- Publication type:
- Article
Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Fabry disease and incidence of cancer.
- Published in:
- 2017
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- Publication type:
- journal article
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Gaucher Disease in Bone: From Pathophysiology to Practice.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 6, p. 996, doi. 10.1002/jbmr.3734
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- Publication type:
- Article
Bone Disease in Patients with Gaucher Disease and Therapeutic Outcomes on Enzyme Replacement.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 2, p. 37
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- Publication type:
- Article
Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.
- Published in:
- EP: Europace, 2011, v. 13, n. 12, p. 1781, doi. 10.1093/europace/eur267
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- Publication type:
- Article
Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications.
- Published in:
- Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1420067
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- Publication type:
- Article
Clinical utilisation of implantable loop recorders in adults with Fabry disease—a multi-centre snapshot study.
- Published in:
- Frontiers in Cardiovascular Medicine, 2023, p. 1, doi. 10.3389/fcvm.2023.1323214
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- Publication type:
- Article
The Role of Heparin in Alleviating Complement-Mediated Acute Intravascular Haemolysis.
- Published in:
- Acta Haematologica, 2008, v. 119, n. 3, p. 166, doi. 10.1159/000134221
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- Publication type:
- Article
White matter integrity correlates with cognition and disease severity in Fabry disease.
- Published in:
- 2020
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- Publication type:
- journal article
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5784, doi. 10.3390/ijms21165784
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- Publication type:
- Article
Shining a light on an additional clinical burden: work-related digital communication survey study – COVID-19 impact on NHS staff wellbeing.
- Published in:
- Humanities & Social Sciences Communications, 2022, v. 9, n. 1, p. 1, doi. 10.1057/s41599-022-01427-7
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- Publication type:
- Article
Lysosomal Storage Disorders and Malignancy.
- Published in:
- Diseases, 2017, v. 5, n. 1, p. 8, doi. 10.3390/diseases5010008
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- Publication type:
- Article
Intravenous enzyme replacement therapy: better in home or hospital?
- Published in:
- British Journal of Nursing, 2006, v. 15, n. 6, p. 330, doi. 10.12968/bjon.2006.15.6.20681
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- Publication type:
- Article
The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2021, v. 22, n. 7, p. 790, doi. 10.1093/ehjci/jeaa101
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- Publication type:
- Article
Insight into hypertrophied hearts: a cardiovascular magnetic resonance study of papillary muscle mass and T1 mapping.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2017, v. 18, n. 9, p. 1034, doi. 10.1093/ehjci/jew187
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- Publication type:
- Article
Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis.
- Published in:
- Drug Design, Development & Therapy, 2021, v. 15, p. 3561, doi. 10.2147/DDDT.S313789
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- Publication type:
- Article
Lysosomal Acid Lipase Deficiency: Therapeutic Options.
- Published in:
- Drug Design, Development & Therapy, 2020, v. 14, p. 591, doi. 10.2147/DDDT.S149264
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- Publication type:
- Article
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.
- Published in:
- Drug Design, Development & Therapy, 2019, v. 13, p. 3705, doi. 10.2147/DDDT.S207856
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- Publication type:
- Article
A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Patients undergoing high dose chemotherapy for primary CNS lymphoma should receive prophylactic thiamine to prevent Wernike’s encephalopathy.
- Published in:
- 2010
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- Publication type:
- Letter
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.
- Published in:
- British Journal of Haematology, 2007, v. 138, n. 6, p. 676, doi. 10.1111/j.1365-2141.2007.06701.x
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- Publication type:
- Article
An expert consensus document on the management of cardiovascular manifestations of Fabry disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The use of Ambroxol for the treatment of Gaucher disease: A systematic review.
- Published in:
- EJHaem, 2024, v. 5, n. 1, p. 206, doi. 10.1002/jha2.852
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- Publication type:
- Article
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) in Fabry Transgenic Mice and in the Plasma of Fabry Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057631
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- Publication type:
- Article
A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020534
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- Publication type:
- Article
Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients.
- Published in:
- Hip International, 2011, v. 21, n. 6, p. 665, doi. 10.5301/HIP.2011.8826
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- Publication type:
- Article
To see a world in a grain of sand: elucidating the pathophysiology of Anderson–Fabry disease through investigations of a cellular model.
- Published in:
- Kidney International, 2009, v. 75, n. 4, p. 351, doi. 10.1038/ki.2008.606
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- Publication type:
- Article
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02937-6
- By:
- Publication type:
- Article
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02796-1
- By:
- Publication type:
- Article
Bortezomib consolidation post‐ASCT as frontline therapy for multiple myeloma deepens disease response and MRD‐negative rate whilst maintaining QOL and response to re‐treatment at relapse.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 5, p. 948, doi. 10.1111/bjh.15649
- By:
- Publication type:
- Article
Abundant pseudo‐Gaucher cells result in delay in diagnosis of plasma cell myeloma.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Gaucher disease: haematological presentations and complications.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 4, p. 427, doi. 10.1111/bjh.12804
- By:
- Publication type:
- Article
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0253-6
- By:
- Publication type:
- Article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
- Published in:
- 2012
- By:
- Publication type:
- journal article