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Malherbe et al. Rare Dis Orphan Drugs J 2024;3:7 Rare Disease and
DOI: 10.20517/rdodj.2023.49
Orphan Drugs Journal
Commentary Open Access
Newborn screening in South Africa: the past,
present, and plans for the future
5,6
3,4
7
1,2
1
Helen L. Malherbe , Jim Bonham , Michelle Carrihill , Karmani Chetty , Engela H. Conradie , Marli
1
1
8
Dercksen , Hilary Goeiman , Marianne C. M. Gomes 9,10 , Brenda Klopper , Neil McKerrow 5,9,11 , Carmencita
17
15
16
12
Padilla , Tahir S. Pillay 4,7,13,14 , Bronwyn Roussot , Tumelo M. Satekge , Michael Urban , George van der
5,6
6,7
5
Watt , Helena Vreede , Dianne Webster 3,18 , Marco Zampoli , Barend C. Vorster 1
1
Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa.
2
Rare Diseases South Africa NPC, The Station Office, Bryanston, Sandton 2021, South Africa.
3
International Society of Neonatal Screening, Maarssen 3607 HP, The Netherlands.
4
International Federation of Clinical Chemistry and Laboratory Medicine, Milan 20159, Italy.
5
Department of Paediatrics and Child Health, University of Cape Town, Red Cross War Memorial Children's Hospital,
Rondebosch 7700, South Africa.
6
Groote Schuur Hospital, Observatory 7935, South Africa.
7
National Health Laboratory Service (NHLS), Sandringham, Johannesburg 2192, South Africa.
8
Western Cape Government Health and Wellness, Cape Town 8000, South Africa.
9
College of Health Sciences, University of KwaZulu Natal, Durban 4001, South Africa.
10
PathCare Vermaak, Johannesburg 2193, South Africa.
11
Paediatrics & Child Health, KwaZulu Natal Department of Health, Pietermaritzburg 3201, South Africa.
12
College of Medicine, University of Manila, Manila 1000, Philippines.
13
Department of Chemical Pathology, University of Pretoria, Pretoria 0001, South Africa.
14
UCT Medical School, University of Cape Town, Observatory 7925, South Africa.
15
Next Biosciences, New Rd. International Business Gateway, Midridge Park, Midrand 1684, South Africa.
16
Department of Pathology, University of Limpopo, Sovenga 0727, South Africa.
17
Division of Human Genetics, Watkins Pitchford Building & Jack Metz building, National Health Laboratory Service (NHLS) and
School of Pathology, University of the Witwatersrand, Johannesburg 2017, South Africa.
18
Newborn Screening New Zealand, Auckland City Hospital, Auckland 1023, New Zealand.
Correspondence to: Dr. Helen L. Malherbe, Centre for Human Metabolomics, North-West University, Potchefstroom 2531,
South Africa; Rare Diseases South Africa NPC, The Station Office, 63 Peter Place, Bryanston, Sandton 2021, South Africa. E-mail:
research@rarediseases.co.za
How to cite this article: Malherbe HL, Bonham J, Carrihill M, Chetty K, Conradie EH, Dercksen M, Goeiman H, Gomes MCM,
Klopper B, McKerrow N, Padilla C, Pillay TS, Roussot B, Satekge TM, Urban M, van der Watt G, Vreede H, Webster D, Zampoli
M, Vorster BC. Newborn screening in South Africa: the past, present, and plans for the future. Rare Dis Orphan Drugs J 2024;3:7.
https://dx.doi.org/10.20517/rdodj.2023.49
Received: 1 Nov 2023 First Decision: 3 Jan 2024 Revised: 22 Jan 2024 Accepted: 2 Feb 2024 Published: 29 Feb 2024
Academic Editor: Daniel Scherman Copy Editor: Fangling Lan Production Editor: Fangling Lan
© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.
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