Literature DB >> 27246584

Why we should care about ultra-rare disease.

Sergio Harari1.   

Abstract

Mesh：

Year:  2016        PMID： 27246584     DOI： 10.1183/16000617.0017-2016

Source DB:  PubMed          Journal:  Eur Respir Rev        ISSN： 0905-9180


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  9 in total

Review 1.  Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges.

Authors:  Antonello Di Paolo; Elena Arrigoni
Journal:  Drugs       Date:  2018-03       Impact factor: 9.546

Review 2.  Pharmacovigilance of medicines for rare and ultrarare diseases.

Authors:  Marco Sardella; Glyn Belcher
Journal:  Ther Adv Drug Saf       Date:  2018-08-14

Review 3.  Next-generation strategies for gene-targeted therapies of central nervous system disorders: A workshop summary.

Authors:  Jill A Morris; Chris H Boshoff; Nina F Schor; Ling M Wong; Guangping Gao; Beverly L Davidson
Journal:  Mol Ther       Date:  2021-09-20       Impact factor: 11.454

4.  Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Authors:  Go Hun Seo; Taeho Kim; In Hee Choi; Jung-Young Park; Jungsul Lee; Sehwan Kim; Dhong-Gun Won; Arum Oh; Yena Lee; Jeongmin Choi; Hajeong Lee; Hee Gyung Kang; Hee Yeon Cho; Min Hyun Cho; Yoon Jeon Kim; Young Hee Yoon; Baik-Lin Eun; Robert J Desnick; Changwon Keum; Beom Hee Lee
Journal:  Clin Genet       Date:  2020-09-17       Impact factor: 4.438

5.  A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors.

Authors:  Anna Forsythe; Wei Zhang; Uwe Phillip Strauss; Marc Fellous; Maesumeh Korei; Karen Keating
Journal:  Ther Adv Med Oncol       Date:  2020-12-21       Impact factor: 8.168

Review 6.  DDA-SKF: Predicting Drug-Disease Associations Using Similarity Kernel Fusion.

Authors:  Chu-Qiao Gao; Yuan-Ke Zhou; Xiao-Hong Xin; Hui Min; Pu-Feng Du
Journal:  Front Pharmacol       Date:  2022-01-13       Impact factor: 5.810

Review 7.  Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Authors:  Terry G J Derks; David F Rodriguez-Buritica; Ayesha Ahmad; Foekje de Boer; María L Couce; Sarah C Grünert; Philippe Labrune; Nerea López Maldonado; Carolina Fischinger Moura de Souza; Rebecca Riba-Wolman; Alessandro Rossi; Heather Saavedra; Rupal Naik Gupta; Vassili Valayannopoulos; John Mitchell
Journal:  Nutrients       Date:  2021-10-27       Impact factor: 5.717

8.  Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?

Authors:  Jan Domaradzki
Journal:  Orphanet J Rare Dis       Date:  2022-03-05       Impact factor: 4.123

9.  Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa.

Authors:  James A Feinstein; Anna L Bruckner; Benjamin Chastek; Amy Anderson; Juan Roman
Journal:  Orphanet J Rare Dis       Date:  2022-09-29       Impact factor: 4.303
  9 in total

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