Found: 119
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Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Cost-effectiveness of enzyme replacement therapy for Fabry disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
- Published in:
- 2013
- By:
- Publication type:
- letter
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
- Published in:
- 2004
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 2, p. 355, doi. 10.1093/ndt/gfi221
- By:
- Publication type:
- Article
Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Can untreated PKU patients escape from intellectual disability? A systematic review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Short-Term Effect of Estrogen on Human Bone Marrow Fat.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 11, p. 2058, doi. 10.1002/jbmr.2557
- By:
- Publication type:
- Article
Fabry or No Fabry: A Case Report.
- Published in:
- 2007
- By:
- Publication type:
- Case Study
Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review.
- Published in:
- 2022
- By:
- Publication type:
- journal article
PP152 The Assessment Of The Price Of A Medicine: The Possible Application Of Cost-Based Pricing Methods.
- Published in:
- International Journal of Technology Assessment in Health Care, 2022, v. 38, p. S89, doi. 10.1017/S0266462322002641
- By:
- Publication type:
- Article
Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37320-0
- By:
- Publication type:
- Article
Type I Gaucher, Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
- Published in:
- Diabetes, 2007, v. 56, p. A341
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Three-dimensional face shape in Fabry disease.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 535, doi. 10.1038/sj.ejhg.5201798
- By:
- Publication type:
- Article
Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1522, doi. 10.1111/aos.15148
- By:
- Publication type:
- Article
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 8, p. 2549, doi. 10.1093/ndt/gfq108
- By:
- Publication type:
- Article
Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment*.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 10, p. 3074, doi. 10.1093/ndt/gfp263
- By:
- Publication type:
- Article
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
- Published in:
- Pediatric Drugs, 2019, v. 21, n. 6, p. 413, doi. 10.1007/s40272-019-00364-4
- By:
- Publication type:
- Article
Gender- and Age-Associated Differences in Bone Marrow Adipose Tissue and Bone Marrow Fat Unsaturation Throughout the Skeleton, Quantified Using Chemical Shift Encoding-Based Water–Fat MRI.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.815835
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- Publication type:
- Article
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.
- Published in:
- British Journal of Haematology, 2013, v. 161, n. 6, p. 832, doi. 10.1111/bjh.12335
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- Publication type:
- Article
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
- Published in:
- British Journal of Haematology, 2012, v. 158, n. 4, p. 528, doi. 10.1111/j.1365-2141.2012.09175.x
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- Publication type:
- Article
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
- By:
- Publication type:
- Article
Graft-versus-host disease: the face of the aggressor.
- Published in:
- British Journal of Haematology, 2002, v. 118, n. 4, p. 932, doi. 10.1046/j.1365-2141.2002.03714.x
- By:
- Publication type:
- Article
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 11, p. 5056, doi. 10.1210/jc.2018-02795
- By:
- Publication type:
- Article
FabryScan: a screening tool for early detection of Fabry disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 11, p. 2393, doi. 10.1007/s00415-012-6619-y
- By:
- Publication type:
- Article
Poikilothermia in a 38-year-old Fabry patient.
- Published in:
- 2011
- By:
- Publication type:
- Report
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 3, p. 354, doi. 10.3390/diagnostics13030354
- By:
- Publication type:
- Article
Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.
- Published in:
- European Journal of Haematology, 2004, v. 72, n. 2, p. 135, doi. 10.1046/j.0902-4441.2003.00193.x
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- Publication type:
- Article
Liver Fibrosis in Type I Gaucher Disease: Magnetic Resonance Imaging, Transient Elastography and Parameters of Iron Storage.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057507
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- Publication type:
- Article
Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047805
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- Publication type:
- Article
Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.
- Published in:
- Kidney International, 2014, v. 86, n. 1, p. 58, doi. 10.1038/ki.2013.520
- By:
- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
- By:
- Publication type:
- Article
The challenges of classical galactosemia: HRQoL in pediatric and adult patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02749-8
- By:
- Publication type:
- Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
- By:
- Publication type:
- Article
Saposin C is a frequent target of paraproteins in Gaucher disease‐associated MGUS/multiple myeloma.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 3, p. 384, doi. 10.1111/bjh.15659
- By:
- Publication type:
- Article
Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.
- Published in:
- British Journal of Haematology, 2017, v. 179, n. 4, p. 635, doi. 10.1111/bjh.14915
- By:
- Publication type:
- Article
Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 845, doi. 10.1210/jc.2007-1702
- By:
- Publication type:
- Article
Dose‐Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis.
- Published in:
- Journal of Clinical Pharmacology, 2019, v. 59, n. 2, p. 229, doi. 10.1002/jcph.1304
- By:
- Publication type:
- Article
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Quality of life in patients with Fabry disease: a systematic review of the literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0296-8
- By:
- Publication type:
- Article
Bone health in phenylketonuria: a systematic review and meta-analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0232-y
- By:
- Publication type:
- Article
Bone health in phenylketonuria: a systematic review and meta-analysis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Quality of life in patients with Fabry disease: a systematic review of the literature.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0112-x
- By:
- Publication type:
- Article
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-51
- By:
- Publication type:
- Article