Translational Science of Rare Diseases
Overview
Translational Science of Rare Diseases is a scientific journal, published by IOS Press since 2016 in English. The journal's country of origin is Netherlands.
Details
Details
Abbr.
Transl Sci Rare Dis
Publisher
IOS Press
Start
2016
End
Continuing
p-ISSN
2214-6490
e-ISSN
2214-6512
Country
Netherlands
Language
English
Metrics
Metrics
h-index / Ranks: 15776
1
SJR / Ranks: 8691
515
CiteScore / Ranks: 11545
1.60
Recent Articles
1.
Hiremath G, Chapa-Rodriguez A, Katzka D, Spergel J, Gold B, Bredenoord A, et al.
Transl Sci Rare Dis
. 2022 Jul;
6(1-2):13-23.
PMID: 35892038
Eosinophilic gastrointestinal disorders (EGID) are a group of allergen-mediated conditions which are characterized by eosinophilic inflammation affecting one or more parts of the gastrointestinal tract. A disproportionately higher number of...
2.
Regier D, Weaver J, Cheng N, Batshaw M, Ottolini M, Shy M, et al.
Transl Sci Rare Dis
. 2022 May;
6(1-2):1-11.
PMID: 35601643
Rare disease clinician investigators are essential to ensure appropriate diagnosis, care, and treatment for the rapidly growing rare disease population. As these researchers are spread across many specialties, learning the...
3.
Hendrix J, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson H, et al.
Transl Sci Rare Dis
. 2021 Jul;
5(3-4):99-129.
PMID: 34268067
Background: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical...
4.
Sen K, Whitehead M, Gropman A
Transl Sci Rare Dis
. 2020 Dec;
5(1-2):87-95.
PMID: 33344172
Background: Urea cycle-related brain disease may take on variable neuroimaging manifestations, ranging from normal to abnormal with or without a signature appearance. In the past, we have described the usefulness...
5.
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira C
Transl Sci Rare Dis
. 2020 Nov;
5(1-2):81-86.
PMID: 33134088
Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in...
6.
Macnamara E, DSouza P, Tifft C
Transl Sci Rare Dis
. 2020 Jun;
4(3-4):179-188.
PMID: 32477883
Undiagnosed and rare conditions are collectively common and affect millions of people worldwide. The NIH Undiagnosed Diseases Program (UDP) strives to achieve both a comprehensive diagnosis and a better understanding...
7.
Chen H, Welby E, Li T, Swaroop A
Transl Sci Rare Dis
. 2019 Nov;
4(1-2):97-115.
PMID: 31763178
Ciliopathies display extensive genetic and clinical heterogeneity, varying in severity, age of onset, disease progression and organ systems affected. Retinal involvement, as demonstrated by photoreceptor dysfunction or death, is a...
8.
Parisi M
Transl Sci Rare Dis
. 2019 Nov;
4(1-2):25-49.
PMID: 31763177
Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the "molar...
9.
Grochowsky A, Gunay-Aygun M
Transl Sci Rare Dis
. 2019 Nov;
4(1-2):1-23.
PMID: 31763176
Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndromes, and Jeune chondrodysplasia...
10.
Leigh M, Horani A, Kinghorn B, OConnor M, Zariwala M, Knowles M
Transl Sci Rare Dis
. 2019 Oct;
4(1-2):51-75.
PMID: 31572664
No abstract available.