0.7(top 50%)
impact factor
765(top 20%)
papers
3.4K(top 20%)
citations
27(top 20%)
h-index
0.8(top 50%)
extended IF
860
all documents
3.7K
doc citations
37(top 20%)
g-index

Top Articles

#TitleJournalYearCitations
1Orphan drugs and rare diseases: a scientometric review (2000 – 2014)Expert Opinion on Orphan Drugs2014172
2Pseudoxanthoma elasticum: diagnostic features, classification and treatment optionsExpert Opinion on Orphan Drugs201469
3Pathogenesis, emerging therapeutic targets and treatment in sialidosisExpert Opinion on Orphan Drugs201556
4Diagnosis, prevalence, and screening of familial dilated cardiomyopathyExpert Opinion on Orphan Drugs201554
5Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitationsExpert Opinion on Orphan Drugs201548
6Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeExpert Opinion on Orphan Drugs201543
7Alveolar echinococcosis: evaluation of therapeutic strategiesExpert Opinion on Orphan Drugs201442
8Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndromeExpert Opinion on Orphan Drugs201542
9Machado Joseph disease: clinical and genetic aspects, and current treatmentExpert Opinion on Orphan Drugs201541
10Gene therapy for Duchenne muscular dystrophyExpert Opinion on Orphan Drugs201540
11Leishmaniasis: treatment, drug resistance and emerging therapiesExpert Opinion on Orphan Drugs201938
12Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)Expert Opinion on Orphan Drugs201737
13Tissue chips to aid drug development and modeling for rare diseasesExpert Opinion on Orphan Drugs201636
14Gene therapy for the treatment of X-linked retinitis pigmentosaExpert Opinion on Orphan Drugs201835
15From mysteries to medicines: drug development for fibrodysplasia ossificans progressivaExpert Opinion on Orphan Drugs201334
16Pathogenic mechanisms and the prospect of gene therapy for choroideremiaExpert Opinion on Orphan Drugs201534
17New therapeutic targets in rare genetic skeletal diseasesExpert Opinion on Orphan Drugs201534
18Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectivesExpert Opinion on Orphan Drugs201634
19Hard targets for a second skeleton: therapeutic horizons for fibrodysplasia ossificans progressiva (FOP)Expert Opinion on Orphan Drugs201734
20Emerging therapies and therapeutic concepts for lysosomal storage diseasesExpert Opinion on Orphan Drugs201332
21Translating HDAC inhibitors in Friedreich’s ataxiaExpert Opinion on Orphan Drugs201632
22The potential of utrophin modulators for the treatment of Duchenne muscular dystrophyExpert Opinion on Orphan Drugs201832
23Neurobiologically-based treatments in Rett syndrome: opportunities and challengesExpert Opinion on Orphan Drugs201631
24Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiencyExpert Opinion on Orphan Drugs201731
25Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophyExpert Opinion on Orphan Drugs201630
26Genetics and prospective therapeutic targets for Sjögren-Larsson SyndromeExpert Opinion on Orphan Drugs201630
27Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)Expert Opinion on Orphan Drugs201328
28Obstacles and future of gene therapy for hemophiliaExpert Opinion on Orphan Drugs201528
29Current therapies for Morquio A syndrome and their clinical outcomesExpert Opinion on Orphan Drugs201628
30Monitoring progression of retinitis pigmentosa: current recommendations and recent advancesExpert Opinion on Orphan Drugs202028
31Short bowel syndrome – characterisation of an orphan condition with many phenotypesExpert Opinion on Orphan Drugs201327
32Nitisinone for the treatment of hereditary tyrosinemia type IExpert Opinion on Orphan Drugs201327
33Galactosialidosis: historic aspects and overview of investigated and emerging treatment optionsExpert Opinion on Orphan Drugs201727
34Emerging and investigational therapies for neuroblastomaExpert Opinion on Orphan Drugs201727
35Epidemiology, pathogenesis and diagnosis of lymphangioleiomyomatosisExpert Opinion on Orphan Drugs201625
36Improvement in vision: a new goal for treatment of hereditary retinal degenerationsExpert Opinion on Orphan Drugs201523
37Advances in understanding of Netherton syndrome and therapeutic implicationsExpert Opinion on Orphan Drugs202023
38Management of acute intermittent porphyriaExpert Opinion on Orphan Drugs201422
39Histaminergic modulation in Tourette syndromeExpert Opinion on Orphan Drugs201622
40Recombinant adeno-associated virus vectors in the treatment of rare diseasesExpert Opinion on Orphan Drugs201520
41Treatment of rapidly progressive systemic sclerosis: current and futures perspectivesExpert Opinion on Orphan Drugs201620
42Advances in the treatment of neuronal ceroid lipofuscinosisExpert Opinion on Orphan Drugs201920
43Treatment options for osteogenesis imperfectaExpert Opinion on Orphan Drugs201519
44Novel therapeutic strategies for the management of ventricular arrhythmias associated with the Brugada syndromeExpert Opinion on Orphan Drugs201519
45A developing portrait of hereditary periodic fevers in childhoodExpert Opinion on Orphan Drugs201819
46Diagnosis and genetics of Marfan syndromeExpert Opinion on Orphan Drugs201418
47Antisense oligonucleotide development for the treatment of muscular dystrophiesExpert Opinion on Orphan Drugs201618
48Enzyme replacement therapy: lessons learned and emerging questionsExpert Opinion on Orphan Drugs201517
49Advances in understanding disease mechanisms and potential treatments for Crigler–Najjar syndromeExpert Opinion on Orphan Drugs201817
50Riboflavin 0.1% (VibeX) for the treatment of keratoconusExpert Opinion on Orphan Drugs201316