1750-1172

Orphanet Journal of Rare Diseases

Springer (Biomed Central Ltd.)

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DOIs for this ISSN

Showing the top 5 of 5353 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 Fabry disease (10.1186/1750-1172-5-30)
Abstract References ORCID License
303.26 1077
2 Management of adult patients with Langerhans cell histiocyto… (10.1186/1750-1172-8-72)
Abstract References ORCID License
245.02 281
3 Dominant optic atrophy (10.1186/1750-1172-7-46)
Abstract References ORCID License
238.56 242
4 Clinical guidelines for the management of craniofacial fibro… (10.1186/1750-1172-7-s1-s2)
Abstract References ORCID License
234.83 222
5 McCune-Albright syndrome and the extraskeletal manifestation… (10.1186/1750-1172-7-s1-s4)
Abstract References ORCID License
230.75 202
6 Dent's disease (10.1186/1750-1172-5-28)
Abstract References ORCID License
228.56 192
7 PMP22 related neuropathies: Charcot-Marie-Tooth disease type… (10.1186/1750-1172-9-38)
Abstract References ORCID License
220.95 161
8 Multicentre consensus recommendations for skin care in inher… (10.1186/1750-1172-9-76)
Abstract References ORCID License
219.03 154
9 Congenital Diaphragmatic Hernia (10.1186/1750-1172-7-1)
Abstract References ORCID License
218.75 153
10 Polycystic liver disease: an overview of pathogenesis, clini… (10.1186/1750-1172-9-69)
Abstract References ORCID License
217.32 148
11 The complete European guidelines on phenylketonuria: diagnos… (10.1186/s13023-017-0685-2)
Abstract ORCID License
211.22 654
12 Guideline of transthyretin-related hereditary amyloidosis fo… (10.1186/1750-1172-8-31)
Abstract ORCID License
208.90 609
13 Interstitial lung diseases in children (10.1186/1750-1172-5-22)
Abstract References ORCID License
206.45 115
14 Pathophysiology and medical treatment of pain in fibrous dys… (10.1186/1750-1172-7-s1-s3)
Abstract References ORCID License
205.69 113
15 Atypical hemolytic uremic syndrome (10.1186/1750-1172-6-60)
Abstract ORCID License
203.83 521
16 Socioeconomic burden of hereditary angioedema: results from… (10.1186/1750-1172-9-99)
Abstract References ORCID License
203.74 108
17 Suggested guidelines for the diagnosis and management of ure… (10.1186/1750-1172-7-32)
Abstract ORCID License
202.29 497
18 Aetiology of biliary atresia: what is actually known? (10.1186/1750-1172-8-128)
Abstract References ORCID License
202.12 104
19 The surgical management of fibrous dysplasia of bone (10.1186/1750-1172-7-s1-s1)
Abstract References ORCID License
201.70 103
20 X-linked adrenoleukodystrophy (X-ALD): clinical presentation… (10.1186/1750-1172-7-51)
Abstract ORCID License
201.56 486
21 VACTERL/VATER Association (10.1186/1750-1172-6-56)
Abstract ORCID License
194.50 391
22 The role of SH3BP2 in the pathophysiology of cherubism (10.1186/1750-1172-7-s1-s5)
Abstract References ORCID License
193.45 85
23 Hamartomatous polyposis syndromes: A review (10.1186/1750-1172-9-101)
Abstract References ORCID License
191.91 82
24 Hearing impairment in Stickler syndrome: a systematic review (10.1186/1750-1172-7-84)
Abstract References ORCID License
190.85 80
25 Xeroderma pigmentosum (10.1186/1750-1172-6-70)
Abstract ORCID License
186.32 304
26 Efficacy and safety of patisiran for familial amyloidotic po… (10.1186/s13023-015-0326-6)
Abstract ORCID License
185.24 294
27 Diagnostic and treatment implications of psychosis secondary… (10.1186/1750-1172-9-65)
Abstract References ORCID License
185.13 70
28 The trisomy 18 syndrome (10.1186/1750-1172-7-81)
Abstract ORCID License
184.45 287
29 Aggressive mature natural killer cell neoplasms: from epidem… (10.1186/1750-1172-8-95)
Abstract References ORCID License
182.61 66
30 Cystinosis: a review (10.1186/s13023-016-0426-y)
Abstract ORCID License
181.00 258
31 The prevalence and epidemiology of genetic renal disease amo… (10.1186/1750-1172-9-98)
Abstract References ORCID License
179.93 62
32 Fibrodysplasia Ossificans Progressiva: Clinical and Genetic… (10.1186/1750-1172-6-80)
Abstract ORCID License
178.92 242
33 TuberOus SClerosis registry to increase disease Awareness (T… (10.1186/s13023-016-0553-5)
Abstract ORCID License
175.83 220
34 Zellweger spectrum disorders: clinical overview and manageme… (10.1186/s13023-015-0368-9)
Abstract ORCID License
174.93 214
35 Osteogenesis imperfecta: the audiological phenotype lacks co… (10.1186/1750-1172-6-88)
Abstract References ORCID License
174.82 55
36 A multicenter study on Leigh syndrome: disease course and pr… (10.1186/1750-1172-9-52)
Abstract ORCID License
174.48 211
37 Consensus guideline for the diagnosis and treatment of aroma… (10.1186/s13023-016-0522-z)
Abstract ORCID License
174.32 210
38 Inherited cobalamin malabsorption. Mutations in three genes… (10.1186/1750-1172-7-56)
Abstract References ORCID License
174.04 54
39 Genetic basis of hyperlysinemia (10.1186/1750-1172-8-57)
Abstract References ORCID License
174.04 54
40 Nijmegen breakage syndrome (NBS) (10.1186/1750-1172-7-13)
Abstract ORCID License
173.70 206
41 Uveitis- a rare disease often associated with systemic disea… (10.1186/1750-1172-7-57)
Abstract ORCID License
173.38 204
42 Pricing and reimbursement of orphan drugs: the need for more… (10.1186/1750-1172-6-42)
Abstract ORCID License
173.06 202
43 Cushing’s disease (10.1186/1750-1172-7-41)
Abstract References ORCID License
172.43 52
44 Past, present and future of hemophilia: a narrative review (10.1186/1750-1172-7-24)
Abstract ORCID License
172.08 196
45 Systemic primary carnitine deficiency: an overview of clinic… (10.1186/1750-1172-7-68)
Abstract ORCID License
171.59 193
46 Vogt-Koyanagi-Harada disease: review of a rare autoimmune di… (10.1186/s13023-016-0412-4)
Abstract ORCID License
171.59 193
47 Encephalopathy in children with Dravet syndrome is not a pur… (10.1186/1750-1172-8-176)
Abstract ORCID License
169.33 180
48 Congenital neutropenia: diagnosis, molecular bases and patie… (10.1186/1750-1172-6-26)
Abstract ORCID License
168.04 173
49 Pseudoxanthoma elasticum (10.1186/s13023-017-0639-8)
Abstract ORCID License
167.47 170
50 Autosomal recessive spastic ataxia of Charlevoix Saguenay (A… (10.1186/1750-1172-8-41)
Abstract ORCID License
167.28 169