2633-0040

Therapeutic Advances in Rare Disease

SAGE Publications

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Your prioritized action plan

Ordered by how many DOIs each fix touches — start here, not with every error at once.

1

Attach ORCID iDs across 29 articles

ORCID iDs strengthen author disambiguation and institutional reporting.

Low impact29 DOIs
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Low impact16 DOIs

DOIs for this ISSN

Showing the top 5 of 132 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 Emerging roles and opportunities for rare disease patient ad… (10.1177/26330040231164425)
ORCID
38.29 33
2 Therapeutic and diagnostic advances in Stickler syndrome (10.1177/2633004020978661)
ORCID
31.38 17
3 A Systematic Review investigating the Effectiveness of Exerc… (10.1177/26330040221076497)
ORCID
26.98 11
4 Clinical evidence of interventions assessed in Friedreich at… (10.1177/26330040221139872)
ORCID
25.00 9
5 Developing a pathway to clinical trials for… (10.1177/26330040241245725)
ORCID
22.58 7
6 Utilizing telehealth to create a clinical model of care for… (10.1177/26330040211038564)
ORCID
19.45 5
7 Primary ovarian malignant mixed Müllerian tumor: a rare case… (10.1177/26330040221107389)
ORCID
19.45 5
8 Novel therapeutics in nystagmus: what has the genetics taugh… (10.1177/2633004021998714)
ORCID
17.47 4
9 Left-sided valvular heart disease and retinopathy in a 38-ye… (10.1177/26330040221145945)
ORCID
15.05 3
10 Understanding the perspective of patients with pulmonary art… (10.1177/2633004020986166)
Abstract
7.53 1
11 Successful combined umbilical cord blood and bone marrow tra… (10.1177/26330040231154283)
ORCID
7.53 1
12 The pharmacological treatment of granulomatosis with polyang… (10.1177/26330040231213888)
ORCID
7.53 1
13 An integrated action plan to fund and support drug developme… (10.1177/26330040241234932)
ORCID
7.53 1
14 Understanding patient, caregiver, and healthcare provider pe… (10.1177/26330040241252448)
ORCID
7.53 1
15 The emerging need to manage patient expectations of haemophi… (10.1177/26330040251330317)
Abstract
7.53 1
16 Introducing Therapeutic Advances in Rare Disease (10.1177/2633004020902860)
Abstract References ORCID
0.00 0
17 Congenital cataract: a guide to genetic and clinical managem… (10.1177/2633004020938061)
0.00 35
18 Role of red free imaging, retinal reflectance and fundus aut… (10.1177/2633004020958013)
0.00 0
19 A review of the treatment landscape in paroxysmal nocturnal… (10.1177/2633004020959349)
0.00 12
20 Conservative management of a fourth ventricular epidermoid i… (10.1177/2633004020969702)
0.00 1
21 Keratoconus: cross-linking the window of the eye (10.1177/26330040211003573)
0.00 5
22 Wiskott–Aldrich syndrome with normal platelet volume in a lo… (10.1177/26330040211009905)
0.00 3
23 A challenging start but a bright future (10.1177/26330040211010660)
Abstract References ORCID
0.00 0
24 IMPACT study: measuring the impact of caregiving on families… (10.1177/26330040211020764)
0.00 4
25 They’ve been BITTEN: reports of institutional and provider b… (10.1177/26330040211022033)
0.00 22
26 Enzyme replacement therapy in lysosomal acid lipase deficien… (10.1177/26330040211026928)
0.00 5
27 New avenues for therapy in mitochondrial optic neuropathies (10.1177/26330040211029037)
0.00 6
28 Wolfram syndrome: new pathophysiological insights and therap… (10.1177/26330040211039518)
0.00 13
29 Improving patient informed consent for haemophilia gene ther… (10.1177/26330040211047244)
0.00 11
30 Marfan syndrome and the eye clinic: from diagnosis to manage… (10.1177/26330040211055738)
0.00 6
31 Etranacogene dezaparvovec for hemophilia B gene therapy (10.1177/26330040211058896)
0.00 11
32 Beyond pigmentation: signs of liver protection during afamel… (10.1177/26330040211065453)
0.00 5
33 Therapeutic angiogenesis in Buerger’s disease: reviewing the… (10.1177/26330040211070295)
0.00 12
34 Pharmacology update: pamidronate for hypertrophic pulmonary… (10.1177/26330040211070298)
0.00 1
35 Animal and cellular models of microphthalmia (10.1177/2633004021997447)
0.00 5
36 What are the benefits of the anti-FGF23 antibody burosumab o… (10.1177/26330040221074702)
0.00 11
37 Telehealth for patients with rare epilepsies (10.1177/26330040221076861)
0.00 2
38 Impact of the Covid-19 epidemic on a US sample of patients w… (10.1177/26330040221082673)
0.00 4
39 Mannose treatment improves immune deficiency in mannose phos… (10.1177/26330040221091283)
0.00 3
40 Quality of life in Barth syndrome (10.1177/26330040221093743)
0.00 1
41 Future of genetic therapies for rare genetic diseases: what… (10.1177/26330040221100840)
0.00 17
42 Congenital disorder of glycosylation – one size does not fit… (10.1177/26330040221118099)
0.00 0
43 End-stage crystalline maculopathy with retinal atrophy in Sj… (10.1177/26330040221122496)
0.00 2
44 ‘Granulomatosis with polyangiitis after Pfizer vaccination’:… (10.1177/26330040221130084)
0.00 8
45 Building cross-border collaborations to increase diversity a… (10.1177/26330040221133124)
0.00 3
46 Racial differences in the dermatological manifestations of t… (10.1177/26330040221140125)
0.00 1
47 Novel insights into the phenotype and long-term D-gal treatm… (10.1177/26330040221150269)
0.00 6
48 Papilledema and retinopathy lead to diagnosis of IgA nephrop… (10.1177/26330040231152957)
0.00 2
49 A novel case of homozygous PAX1 mutation associated with hyp… (10.1177/26330040231158776)
0.00 1
50 Bulbar conjunctival plexiform schwannoma in a 5-year-old pat… (10.1177/26330040231178321)
0.00 0