Orphanet Journal of Rare Diseases

3.3(top 10%)

impact factor

3.5K(top 5%)

papers

105.3K(top 5%)

citations

136(top 5%)

h-index

3.4(top 10%)

impact factor

4.1K

all documents

115.9K

doc citations

211(top 5%)

g-index

Top Articles

#	Title	Journal	Year	Citations
1	Niemann-Pick disease type C	Orphanet Journal of Rare Diseases	2010	985
2	Beta-thalassemia	Orphanet Journal of Rare Diseases	2010	924
3	Fabry disease	Orphanet Journal of Rare Diseases	2010	885
4	Huntington's disease: a clinical review	Orphanet Journal of Rare Diseases	2010	826
5	Amyotrophic lateral sclerosis	Orphanet Journal of Rare Diseases	2009	795
6	Retinitis pigmentosa	Orphanet Journal of Rare Diseases	2006	723
7	Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis	Orphanet Journal of Rare Diseases	2007	652
8	Suggested guidelines for the diagnosis and management of urea cycle disorders	Orphanet Journal of Rare Diseases	2012	596
9	Guideline of transthyretin-related hereditary amyloidosis for clinicians	Orphanet Journal of Rare Diseases	2013	525
10	Atypical hemolytic uremic syndrome	Orphanet Journal of Rare Diseases	2011	514
11	Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia	Orphanet Journal of Rare Diseases	2014	482
12	The complete European guidelines on phenylketonuria: diagnosis and treatment	Orphanet Journal of Rare Diseases	2017	463
13	Anorectal malformations	Orphanet Journal of Rare Diseases	2007	436
14	Toxic epidermal necrolysis and Stevens-Johnson syndrome	Orphanet Journal of Rare Diseases	2010	434
15	Congenital hypothyroidism	Orphanet Journal of Rare Diseases	2010	427
16	Familial adenomatous polyposis	Orphanet Journal of Rare Diseases	2009	425
17	Ataxia telangiectasia: a review	Orphanet Journal of Rare Diseases	2016	419
18	α-thalassaemia	Orphanet Journal of Rare Diseases	2010	417
19	Oculocutaneous albinism	Orphanet Journal of Rare Diseases	2007	411
20	Neurofibromatosis type 2 (NF2): A clinical and molecular review	Orphanet Journal of Rare Diseases	2009	404
21	X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management	Orphanet Journal of Rare Diseases	2012	403
22	Malignant hyperthermia: a review	Orphanet Journal of Rare Diseases	2015	392
23	Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review	Orphanet Journal of Rare Diseases	2017	391
24	Nevoid basal cell carcinoma syndrome (Gorlin syndrome)	Orphanet Journal of Rare Diseases	2008	379
25	Cone rod dystrophies	Orphanet Journal of Rare Diseases	2007	375
26	Osteopetrosis	Orphanet Journal of Rare Diseases	2009	375
27	McCune-Albright syndrome	Orphanet Journal of Rare Diseases	2008	367
28	Osteosarcoma (Osteogenic sarcoma)	Orphanet Journal of Rare Diseases	2007	364
29	Spinal muscular atrophy	Orphanet Journal of Rare Diseases	2011	363
30	Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management	Orphanet Journal of Rare Diseases	2014	357
31	Oesophageal atresia	Orphanet Journal of Rare Diseases	2007	356
32	Malignant hyperthermia	Orphanet Journal of Rare Diseases	2007	346
33	Adaptive design methods in clinical trials – a review	Orphanet Journal of Rare Diseases	2008	346
34	VACTERL/VATER Association	Orphanet Journal of Rare Diseases	2011	336
35	Idiopathic pulmonary fibrosis	Orphanet Journal of Rare Diseases	2008	332
36	Joubert Syndrome and related disorders	Orphanet Journal of Rare Diseases	2010	325
37	The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review	Orphanet Journal of Rare Diseases	2017	324
38	Anophthalmia and microphthalmia	Orphanet Journal of Rare Diseases	2007	310
39	Progressive familial intrahepatic cholestasis	Orphanet Journal of Rare Diseases	2009	308
40	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome	Orphanet Journal of Rare Diseases	2007	305
41	Holoprosencephaly	Orphanet Journal of Rare Diseases	2007	299
42	Congenital hyperinsulinism: current trends in diagnosis and therapy	Orphanet Journal of Rare Diseases	2011	295
43	Achondroplasia: a comprehensive clinical review	Orphanet Journal of Rare Diseases	2019	292
44	Noonan syndrome	Orphanet Journal of Rare Diseases	2007	287
45	Zellweger spectrum disorders: clinical overview and management approach	Orphanet Journal of Rare Diseases	2015	286
46	Xeroderma pigmentosum	Orphanet Journal of Rare Diseases	2011	283
47	Barth syndrome	Orphanet Journal of Rare Diseases	2013	282
48	Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net	Orphanet Journal of Rare Diseases	2013	281
49	Amelogenesis imperfecta	Orphanet Journal of Rare Diseases	2007	279
50	Ehlers-Danlos syndrome type IV	Orphanet Journal of Rare Diseases	2007	273

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