Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases – an experience of private medical college and hospital, South India-Reference-Cited by-同舟云学术

Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases – an experience of private medical college and hospital, South India

Published:2020-08-31 Issue:3 Volume:9 Page:179-183
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Nilakantam Sathish Raju¹,Bhat Deepa²³,Ravi M.D.⁴,Dayananda (Col) M¹,Basavanagowdappa H.⁵,Kumar K Jagadish⁴

Affiliation:

1. Department of Hospital Administration, JSS Medical College & Hospital, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.

2. Centre for Medical Genomics & Counseling, Department of Medical Genetics, JSS Medical College & Hospital, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.

3. Department of Anatomy, JSS Medical College & Hospital, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.

4. Department of Paediatrics, JSS Medical College & Hospital, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.

5. Department of General Medicine, JSS Medical College & Hospital, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/9/3/9_2020.03039/_pdf

Reference11 articles.

1. 1. GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases-experiences from India. Hum Genomics. 2019; 14:52.

2. 2. Verma IC. Burden of genetic disorders in India. Indian J Pediatr. 2000; 67:893-898.

3. 3. Choudhury MC, Saberwal G. The role of patient organizations in the rare disease ecosystem in India: an interview based study. Orphanet J Rare Dis. 2019; 14:117.

4. 4. Šimerka P. Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02). Official Journal of the European Union. 2009; 171:7-10.

5. 5. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, Hughes DA; International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group. Rare disease terminology and definitions-a systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015; 18:906-914.

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