An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa-Reference-Cited by-同舟云学术

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa

Published:2021-04-01 Issue:2 Volume:19 Page:143-150
ISSN:1947-5535
Container-title:Biopreservation and Biobanking
language:en
Short-container-title:Biopreservation and Biobanking

Author:

Conradie Engela H.¹,Malherbe Helen²³,Hendriksz Christian J.¹,Dercksen Marli¹,Vorster Barend C.¹

Affiliation:

1. North-West University, Human Metabolomics, Potchefstroom, South Africa.

2. KwaZulu-Natal Research Innovation and Sequencing Platform (KRISP), School of Laboratory Medicine and Medical Sciences, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.

3. Rare Diseases South Africa NPC, Sunninghill, South Africa.

Publisher

Mary Ann Liebert Inc

Subject

Cell Biology,General Biochemistry, Genetics and Molecular Biology,General Medicine,Medicine (miscellaneous)

Link

https://www.liebertpub.com/doi/pdf/10.1089/bio.2020.0108

Reference66 articles.

1. The Challenge of Rare Diseases

2. Clinical research for rare disease: Opportunities, challenges, and solutions

3. McKusick's Online Mendelian Inheritance in Man (OMIM(R))

4. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A comprehensive review on the current status of CRISPR based clinical trials for rare diseases;International Journal of Biological Macromolecules;2024-10

2. Newborn screening in South Africa: the past, present, and plans for the future;Rare Disease and Orphan Drugs Journal;2024-02-29

3. It's a Small World After All…or Is It?;Biopreservation and Biobanking;2023-04-01

4. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges;International Journal of Environmental Research and Public Health;2023-03-08

5. The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation;Computational and Structural Biotechnology Journal;2023