Page 61 - Read Online
P. 61

Malherbe et al. Rare Dis Orphan Drugs J 2024;3:7  https://dx.doi.org/10.20517/rdodj.2023.49  Page 11 of 11

                   22nd Congress of the Society for Endocrinology, Metabolism and Diabetes of Southern Africa, Sun City, Bophutatswana, 20-23
                   March 1985.
               51.      Lloyd-Puryear M, Brower A, Berry SA, Brosco JP, Bowdish B, Watson MS. Foundation of the newborn screening translational
                   research network and its tools for research. Genet Med 2019;21:1271-9.  DOI  PubMed
               52.      Vorster BC. Presentation: national newborn screening programme to identify metabolism errors associated with mental retardation.
                   IAEA-NECSA project SAF/6/004 & 006. Center for Human Metabolomics, Potchefstroom, South Africa: North-West University;
                   2016.
               53.      National Department of Health. Human genetics policy guidelines for the management and prevention of genetic disorders, birth
                   defects and disabilities. Pretoria: National Department of Health. 2001. Available from: https://www.gov.za/sites/default/files/gcis_
                   document/201409/humangenetics0.pdf [Last accessed on 27 Feb 2024].
               54.      Carrihill MM, Delport SV. An audit of the thyroid screening programme in the Peninsula Maternal and neonatal services (PMNS). J
                   Endocrinol Metab Diabetes South Afr 2007;12:27. Available from: https://go.gale.com/ps/i.do?id=GALE%7CA168164786&sid=
                   googleScholar&v=2.1&it=r&linkaccess=abs&issn=16089677&p=AONE&sw=w&userGroupName=anon%7E3d63112e&aty=open-
                   web-entry [Last accessed on 27 Feb 2024].
               55.      National Department of Health. Clinical guidelines for genetic services - 2021. Available from: https://knowledgehub.health.gov.za/
                   elibrary/clinical-guidelines-genetics-services-2021 [Last accessed on 27 Feb 2024].
               56.      Allanson ER, Pattinson RC. Quality-of-care audits and perinatal mortality in South Africa. Bull World Health Organ 2015;93:424-8.
                   DOI  PubMed  PMC
               57.      Horwood C, Haskins L, Phakathi S, McKerrow N. A health systems strengthening intervention to improve quality of care for sick and
                   small newborn infants: results from an evaluation in district hospitals in KwaZulu-Natal, South Africa. BMC Pediatr 2019;19:29.  DOI
                   PubMed  PMC
               58.      Niekerk AM, Cullis RM, Linley LL, Zühlke L. Feasibility of pulse oximetry pre-discharge screening implementation for detecting
                   critical congenital heart lesions in newborns in a secondary level maternity hospital in the Western Cape, South Africa: the
                   “POPSICLe” study. S Afr Med J 2016;106:817-21.  DOI
               59.      Bezuidenhout JK, Khoza-Shangase K, De Maayer T, Strehlau R. Outcomes of newborn hearing screening at an academic secondary
                   level hospital in Johannesburg, South Africa. S Afr J Commun Disord 2021;68:e1-8.  DOI  PubMed  PMC
               60.      Gina A, Bednarczuk NF, Jayawardena A, Rea P, Arshad Q, Saman Y. Universal newborn hearing screening in South Africa: a single-
                   centre study. BMJ Paediatr Open 2021;5:e000976.  DOI  PubMed  PMC
               61.      Kanji A. Newborn and infant hearing screening at primary healthcare clinics in South Africa designated as national health insurance
                   pilot sites: an exploratory study. S Afr J Commun Disord 2022;69:e1-7.  DOI  PubMed  PMC
               62.      Conradie EH, Malherbe H, Hendriksz CJ, Dercksen M, Vorster BC. An overview of benefits and challenges of rare disease biobanking
                   in Africa, focusing on South Africa. Biopreserv Biobank 2021;19:143-50.  DOI  PubMed
               63.      Dercksen M, Conradie EH, Hendriksz CJ, Malherbe H, Vorster BC. The advantages of rare disease biobanking: a localised source of
                   genetic  knowledge  to  benefit  the  South  African  rare  disease  community  and  related  stakeholders  worldwide.  S  Afr  Med  J
                   2023;113:1512-3. Available from: https://journals.co.za/doi/full/10.7196/SAMJ.2023.v113i12.1507 [Last accessed on 27 Feb 2024]
               64.      Spooner E, Govender K, Reddy T, et al. Point-of-care HIV testing best practice for early infant diagnosis: an implementation study.
                   BMC Public Health 2019;19:731.  DOI  PubMed  PMC
               65.      Christianson A, Zimmern R, Kristoffersson U, et al. Health needs assessment for medical genetic services for congenital disorders in
                   middle- and low-income nations. J Community Genet 2013;4:297-308.  DOI  PubMed  PMC
               66.      Nacul LC, Stewart A, Alberg C, et al. A toolkit to assess health needs for congenital disorders in low- and middle-income countries: an
                   instrument for public health action. J Public Health 2014;36:243-50.  DOI  PubMed  PMC
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