1.0(top 50%)
2-year impact
645(top 20%)
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2.8K(top 50%)
PR citations
25(top 20%)
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29(top 20%)
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1.0(top 50%)
2-YI (no self-cite.)
727
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Top Articles

#TitleJournalYearCitations
1Orphan drugs and rare diseases: a scientometric review (2000 – 2014)Expert Opinion on Orphan Drugs2014181
2Pseudoxanthoma elasticum: diagnostic features, classification and treatment optionsExpert Opinion on Orphan Drugs201461
3Pathogenesis, emerging therapeutic targets and treatment in sialidosisExpert Opinion on Orphan Drugs201559
4Diagnosis, prevalence, and screening of familial dilated cardiomyopathyExpert Opinion on Orphan Drugs201555
5Leishmaniasis: treatment, drug resistance and emerging therapiesExpert Opinion on Orphan Drugs201950
6Machado Joseph disease: clinical and genetic aspects, and current treatmentExpert Opinion on Orphan Drugs201545
7Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)Expert Opinion on Orphan Drugs201745
8Gene therapy for the treatment of X-linked retinitis pigmentosaExpert Opinion on Orphan Drugs201844
9Monitoring progression of retinitis pigmentosa: current recommendations and recent advancesExpert Opinion on Orphan Drugs202039
10Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndromeExpert Opinion on Orphan Drugs201538
11Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiencyExpert Opinion on Orphan Drugs201737
12The potential of utrophin modulators for the treatment of Duchenne muscular dystrophyExpert Opinion on Orphan Drugs201837
13Alveolar echinococcosis: evaluation of therapeutic strategiesExpert Opinion on Orphan Drugs201434
14Pathogenic mechanisms and the prospect of gene therapy for choroideremiaExpert Opinion on Orphan Drugs201533
15Advances in understanding of Netherton syndrome and therapeutic implicationsExpert Opinion on Orphan Drugs202033
16Current therapies for Morquio A syndrome and their clinical outcomesExpert Opinion on Orphan Drugs201632
17Neurobiologically-based treatments in Rett syndrome: opportunities and challengesExpert Opinion on Orphan Drugs201632
18Current and emerging therapies for the treatment of leishmaniasisExpert Opinion on Orphan Drugs202432
19Galactosialidosis: historic aspects and overview of investigated and emerging treatment optionsExpert Opinion on Orphan Drugs201731
20From mysteries to medicines: drug development for fibrodysplasia ossificans progressivaExpert Opinion on Orphan Drugs201330
21Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeExpert Opinion on Orphan Drugs201530
22Translating HDAC inhibitors in Friedreich’s ataxiaExpert Opinion on Orphan Drugs201630
23Emerging and investigational therapies for neuroblastomaExpert Opinion on Orphan Drugs201730
24Tissue chips to aid drug development and modeling for rare diseasesExpert Opinion on Orphan Drugs201629
25Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophyExpert Opinion on Orphan Drugs201629
26Epidemiology, pathogenesis and diagnosis of lymphangioleiomyomatosisExpert Opinion on Orphan Drugs201629
27Obstacles and future of gene therapy for hemophiliaExpert Opinion on Orphan Drugs201528
28Advances in the treatment of neuronal ceroid lipofuscinosisExpert Opinion on Orphan Drugs201928
29New therapeutic targets in rare genetic skeletal diseasesExpert Opinion on Orphan Drugs201527
30Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectivesExpert Opinion on Orphan Drugs201627
31Short bowel syndrome – characterisation of an orphan condition with many phenotypesExpert Opinion on Orphan Drugs201326
32Genetics and prospective therapeutic targets for Sjögren-Larsson SyndromeExpert Opinion on Orphan Drugs201626
33Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)Expert Opinion on Orphan Drugs201323
34Advances in understanding disease mechanisms and potential treatments for Crigler–Najjar syndromeExpert Opinion on Orphan Drugs201823
35Emerging therapies and therapeutic concepts for lysosomal storage diseasesExpert Opinion on Orphan Drugs201322
36Management of acute intermittent porphyriaExpert Opinion on Orphan Drugs201422
37Treatment options for osteogenesis imperfectaExpert Opinion on Orphan Drugs201520
38Improvement in vision: a new goal for treatment of hereditary retinal degenerationsExpert Opinion on Orphan Drugs201520
39Naegleria fowleri: diagnosis, treatment options and pathogenesisExpert Opinion on Orphan Drugs201920
40Recombinant adeno-associated virus vectors in the treatment of rare diseasesExpert Opinion on Orphan Drugs201518
41Glycerol phenylbutyrate for the maintenance treatment of patients with deficiencies in enzymes of the urea cycleExpert Opinion on Orphan Drugs201718
42Antisense oligonucleotide development for the treatment of muscular dystrophiesExpert Opinion on Orphan Drugs201617
43Diagnosis and genetics of Marfan syndromeExpert Opinion on Orphan Drugs201416
44Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in SpainExpert Opinion on Orphan Drugs201916
45Pathogenesis, clinical features and diagnosis of sarcoglycanopathiesExpert Opinion on Orphan Drugs201615
46Rare tumors in gynaecological cancers and the lack of therapeutic options and clinical trialsExpert Opinion on Orphan Drugs201715
47Druggable targets, clinical trial design and proposed pharmacological management in fibrodysplasia ossificans progressivaExpert Opinion on Orphan Drugs202015
48Enzyme replacement therapy: lessons learned and emerging questionsExpert Opinion on Orphan Drugs201514
49New insights in primary ciliary dyskinesiaExpert Opinion on Orphan Drugs201714
50Clinical trial design for Friedreich ataxia - Where are we now and what do we need?Expert Opinion on Orphan Drugs201814