# | Title | Journal | Year | Citations |
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1 | Orphan drugs and rare diseases: a scientometric review (2000 – 2014) | Expert Opinion on Orphan Drugs | 2014 | 172 |
2 | Pseudoxanthoma elasticum: diagnostic features, classification and treatment options | Expert Opinion on Orphan Drugs | 2014 | 69 |
3 | Pathogenesis, emerging therapeutic targets and treatment in sialidosis | Expert Opinion on Orphan Drugs | 2015 | 56 |
4 | Diagnosis, prevalence, and screening of familial dilated cardiomyopathy | Expert Opinion on Orphan Drugs | 2015 | 54 |
5 | Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations | Expert Opinion on Orphan Drugs | 2015 | 48 |
6 | Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndrome | Expert Opinion on Orphan Drugs | 2015 | 43 |
7 | Alveolar echinococcosis: evaluation of therapeutic strategies | Expert Opinion on Orphan Drugs | 2014 | 42 |
8 | Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome | Expert Opinion on Orphan Drugs | 2015 | 42 |
9 | Machado Joseph disease: clinical and genetic aspects, and current treatment | Expert Opinion on Orphan Drugs | 2015 | 41 |
10 | Gene therapy for Duchenne muscular dystrophy | Expert Opinion on Orphan Drugs | 2015 | 40 |
11 | Leishmaniasis: treatment, drug resistance and emerging therapies | Expert Opinion on Orphan Drugs | 2019 | 38 |
12 | Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome) | Expert Opinion on Orphan Drugs | 2017 | 37 |
13 | Tissue chips to aid drug development and modeling for rare diseases | Expert Opinion on Orphan Drugs | 2016 | 36 |
14 | Gene therapy for the treatment of X-linked retinitis pigmentosa | Expert Opinion on Orphan Drugs | 2018 | 35 |
15 | From mysteries to medicines: drug development for fibrodysplasia ossificans progressiva | Expert Opinion on Orphan Drugs | 2013 | 34 |
16 | Pathogenic mechanisms and the prospect of gene therapy for choroideremia | Expert Opinion on Orphan Drugs | 2015 | 34 |
17 | New therapeutic targets in rare genetic skeletal diseases | Expert Opinion on Orphan Drugs | 2015 | 34 |
18 | Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives | Expert Opinion on Orphan Drugs | 2016 | 34 |
19 | Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP) | Expert Opinion on Orphan Drugs | 2017 | 34 |
20 | Emerging therapies and therapeutic concepts for lysosomal storage diseases | Expert Opinion on Orphan Drugs | 2013 | 32 |
21 | Translating HDAC inhibitors in Friedreich’s ataxia | Expert Opinion on Orphan Drugs | 2016 | 32 |
22 | The potential of utrophin modulators for the treatment of Duchenne muscular dystrophy | Expert Opinion on Orphan Drugs | 2018 | 32 |
23 | Neurobiologically-based treatments in Rett syndrome: opportunities and challenges | Expert Opinion on Orphan Drugs | 2016 | 31 |
24 | Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency | Expert Opinion on Orphan Drugs | 2017 | 31 |
25 | Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy | Expert Opinion on Orphan Drugs | 2016 | 30 |
26 | Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome | Expert Opinion on Orphan Drugs | 2016 | 30 |
27 | Therapies of mucopolysaccharidosis IVA (Morquio A syndrome) | Expert Opinion on Orphan Drugs | 2013 | 28 |
28 | Obstacles and future of gene therapy for hemophilia | Expert Opinion on Orphan Drugs | 2015 | 28 |
29 | Current therapies for Morquio A syndrome and their clinical outcomes | Expert Opinion on Orphan Drugs | 2016 | 28 |
30 | Monitoring progression of retinitis pigmentosa: current recommendations and recent advances | Expert Opinion on Orphan Drugs | 2020 | 28 |
31 | Short bowel syndrome – characterisation of an orphan condition with many phenotypes | Expert Opinion on Orphan Drugs | 2013 | 27 |
32 | Nitisinone for the treatment of hereditary tyrosinemia type I | Expert Opinion on Orphan Drugs | 2013 | 27 |
33 | Galactosialidosis: historic aspects and overview of investigated and emerging treatment options | Expert Opinion on Orphan Drugs | 2017 | 27 |
34 | Emerging and investigational therapies for neuroblastoma | Expert Opinion on Orphan Drugs | 2017 | 27 |
35 | Epidemiology, pathogenesis and diagnosis of lymphangioleiomyomatosis | Expert Opinion on Orphan Drugs | 2016 | 25 |
36 | Improvement in vision: a new goal for treatment of hereditary retinal degenerations | Expert Opinion on Orphan Drugs | 2015 | 23 |
37 | Advances in understanding of Netherton syndrome and therapeutic implications | Expert Opinion on Orphan Drugs | 2020 | 23 |
38 | Management of acute intermittent porphyria | Expert Opinion on Orphan Drugs | 2014 | 22 |
39 | Histaminergic modulation in Tourette syndrome | Expert Opinion on Orphan Drugs | 2016 | 22 |
40 | Recombinant adeno-associated virus vectors in the treatment of rare diseases | Expert Opinion on Orphan Drugs | 2015 | 20 |
41 | Treatment of rapidly progressive systemic sclerosis: current and futures perspectives | Expert Opinion on Orphan Drugs | 2016 | 20 |
42 | Advances in the treatment of neuronal ceroid lipofuscinosis | Expert Opinion on Orphan Drugs | 2019 | 20 |
43 | Treatment options for osteogenesis imperfecta | Expert Opinion on Orphan Drugs | 2015 | 19 |
44 | Novel therapeutic strategies for the management of ventricular arrhythmias associated with the Brugada syndrome | Expert Opinion on Orphan Drugs | 2015 | 19 |
45 | A developing portrait of hereditary periodic fevers in childhood | Expert Opinion on Orphan Drugs | 2018 | 19 |
46 | Diagnosis and genetics of Marfan syndrome | Expert Opinion on Orphan Drugs | 2014 | 18 |
47 | Antisense oligonucleotide development for the treatment of muscular dystrophies | Expert Opinion on Orphan Drugs | 2016 | 18 |
48 | Enzyme replacement therapy: lessons learned and emerging questions | Expert Opinion on Orphan Drugs | 2015 | 17 |
49 | Advances in understanding disease mechanisms and potential treatments for Crigler–Najjar syndrome | Expert Opinion on Orphan Drugs | 2018 | 17 |
50 | Riboflavin 0.1% (VibeX) for the treatment of keratoconus | Expert Opinion on Orphan Drugs | 2013 | 16 |