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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
Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation.
- Published in:
- Drugs in R&D, 2023, v. 23, n. 2, p. 141, doi. 10.1007/s40268-023-00421-x
- By:
- Publication type:
- Article
Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 3, p. 773, doi. 10.3390/pharmaceutics15030773
- 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
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Clinical evidence for orphan medicinal products-a cause for concern?
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-164
- By:
- Publication type:
- Article
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-103
- By:
- Publication type:
- Article
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-47
- By:
- Publication type:
- Article
Clinical pathways for inborn errors of metabolism: warranted and feasible.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-37
- By:
- Publication type:
- Article
Cost-effectiveness of enzyme replacement therapy for Fabry disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-29
- By:
- Publication type:
- Article
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical evidence for orphan medicinal products-a cause for concern?
- Published in:
- 2013
- By:
- Publication type:
- journal article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 102, doi. 10.1186/1750-1172-7-102
- By:
- Publication type:
- Article
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 16, doi. 10.1186/1750-1172-6-16
- 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
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
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
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
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
- By:
- Publication type:
- Article
Drug Repurposing for Rare Diseases: A Role for Academia.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.746987
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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
- By:
- 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
- By:
- Publication type:
- Article
Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine.
- Published in:
- European Heart Journal, 2020, v. 41, n. 5, p. 614, doi. 10.1093/eurheartj/ehaa041
- 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
Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study.
- Published in:
- American Journal of Neuroradiology, 2023, v. 44, n. 10, p. 1157, doi. 10.3174/ajnr.A8001
- 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
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.
- Published in:
- BMC Neurology, 2010, v. 10, p. 38, doi. 10.1186/1471-2377-10-38
- By:
- Publication type:
- Article
Poikilothermia in a 38-year-old Fabry patient.
- Published in:
- 2011
- By:
- Publication type:
- Report
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
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
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