| scholarly article | Q13442814 |
| review article | Q7318358 |
| P50 | author | Bengt Fadeel | Q27990117 |
| P2093 | author name string | Henter JI | |
| Wästfelt M | |||
| P2860 | cites work | Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease | Q28143064 |
| LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1 | Q28210584 | ||
| The pathophysiology and treatment of hereditary tyrosinemia type 1. | Q34464154 | ||
| Two decades of orphan product development | Q34932215 | ||
| The further evolution of biotech | Q35037675 | ||
| Human primary immunodeficiency diseases: a perspective | Q35618118 | ||
| Severe combined immunodeficiency. A model disease for molecular immunology and therapy | Q36015021 | ||
| Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors | Q36266189 | ||
| Drugs for exceptionally rare diseases: do they deserve special status for funding? | Q36276435 | ||
| Apoptosis: a basic biological phenomenon with wide-ranging implications in human disease | Q36325036 | ||
| Current strategies for the treatment of hereditary tyrosinemia type I. | Q36403674 | ||
| Cytotoxic therapy for severe avian influenza A (H5N1) infection. | Q36418624 | ||
| Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation | Q40574611 | ||
| Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase | Q42049815 | ||
| Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning | Q44044895 | ||
| Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector | Q45880148 | ||
| Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis | Q46509825 | ||
| Adopting orphan drugs--two dozen years of treating rare diseases. | Q53259370 | ||
| Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). | Q53352094 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | rare disease | Q929833 |
| orphan drug | Q1367466 | ||
| lessons learned | Q1673259 | ||
| P304 | page(s) | 1-10 | |
| P577 | publication date | 2006-07-01 | |
| P1433 | published in | Journal of Internal Medicine | Q6295387 |
| P1476 | title | A journey of hope: lessons learned from studies on rare diseases and orphan drugs | |
| P478 | volume | 260 |
| Q53460357 | A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. |
| Q51894555 | A cross-national comparative study of orphan drug policies in the United States, the European Union, and Japan: towards a made-in-China orphan drug policy. |
| Q45901716 | A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study. |
| Q30837156 | A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research |
| Q34829905 | Access to orphan drugs despite poor quality of clinical evidence |
| Q28068275 | An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry |
| Q36774698 | Challenges in the design and conduct of therapeutic trials in channel disorders |
| Q38564644 | Cognitive and Affective Uses of a Thoracic Outlet Syndrome Facebook Support Group |
| Q37006526 | Directions for new developments on statistical design and analysis of small population group trials |
| Q38611154 | Does market exclusivity hinder the development of Follow-on Orphan Medicinal Products in Europe? |
| Q99709300 | Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak |
| Q37866927 | Drug repositioning for orphan diseases |
| Q37599975 | Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement |
| Q37566934 | Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients' health needs? |
| Q37763210 | Ethical perspectives on relations between industry and neuropsychiatric medicine |
| Q45594506 | How disease advocacy organizations participate in clinical research: a survey of genetic organizations |
| Q37074235 | Incentives for orphan drug research and development in the United States |
| Q38291431 | Involving patients in reducing decision uncertainties around orphan and ultra-orphan drugs: a rare opportunity? |
| Q33309109 | Lessons learnt from assembling screening libraries for drug discovery for neglected diseases |
| Q45951427 | Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. |
| Q45875078 | Living with a rare disorder: a systematic review of the qualitative literature. |
| Q41456572 | Living with and treating rare diseases: experiences of patients and professional health care providers |
| Q37021406 | Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates |
| Q58614729 | Multi-Method Patient-Engagement Approach: A Case Example from a PCORI-Funded Training Project |
| Q28468294 | Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs |
| Q36860946 | New approaches to the treatment of dense deposit disease |
| Q37586400 | New directions for patient-centred care in scleroderma: the Scleroderma Patient-centred Intervention Network (SPIN). |
| Q41661912 | Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life |
| Q41964997 | Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery. |
| Q45882722 | Orphan diseases: state of the drug discovery art. |
| Q96298428 | Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study |
| Q59806220 | Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review |
| Q88313209 | Policies and availability of orphan medicines in outpatient care in 24 European countries |
| Q37157382 | Predictors of orphan drug approval in the European Union |
| Q95299201 | Rare Genetic Diseases: Nature's Experiments on Human Development |
| Q38178791 | Rare lung disease and orphan drug development |
| Q50106569 | RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. |
| Q64091388 | Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness |
| Q37731697 | Review of 11 national policies for rare diseases in the context of key patient needs |
| Q95272536 | Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India |
| Q27026807 | Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease |
| Q43265266 | Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. |
| Q28087174 | The National Clinical Trials Network: Conducting Successful Clinical Trials of New Therapies for Rare Cancers |
| Q37402943 | The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases |
| Q36454326 | The involvement of patient organisations in rare disease research: a mixed methods study in Australia. |
| Q36236963 | The need for worldwide policy and action plans for rare diseases |
| Q26801751 | The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review |
| Q64979755 | The role of patient organizations in the rare disease ecosystem in India: an interview based study. |
| Q49553638 | Three-dimensional cell culture: A powerful tool in tumor research and drug discovery. |
| Q36375543 | Unintended effects of orphan product designation for rare neurological diseases. |
| Q55457221 | Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases. |
| Q37332504 | What, if anything, is specific about having a rare disorder? Patients' judgements on being ill and being rare. |
| Q37191857 | Why rare diseases are an important medical and social issue |
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