Page 60 - Read Online
P. 60

Page 10 of 11           Malherbe et al. Rare Dis Orphan Drugs J 2024;3:7  https://dx.doi.org/10.20517/rdodj.2023.49

                   P03052021.pdf [Last accessed on 27 Feb 2024].
               24.      Dorrington R, Bradshaw D, Laubscher R, Nannan N. Rapid mortality surveillance report 2019 & 2020. Cape Town: South African
                   Medical Research Council. 2021. Available from: https://www.samrc.ac.za/sites/default/files/attachments/2022-08/Rapid%
                   20Mortality%20Surveillance%20Report%202019%262020.pdf [Last accessed on 27 Feb 2024].
               25.      Wessels J, Sherman G, Bamford L, et al. The updated South African national guideline for the prevention of mother to child
                   transmission of communicable infections (2019). South Afr J HIV Med 2020;21:1079.  DOI  PubMed  PMC
               26.      Stats Sa. Statistical release P0318. General household survey 2022. Available from: https://www.statssa.gov.za/publications/P0318/
                   P03182022.pdf [Last accessed on 27 Feb 2024].
               27.      Pillay Y, Pienaar S, Barron P, Zondi T. Impact of COVID-19 on routine primary healthcare services in South Africa. S Afr Med J
                   2021;111:714-9.  DOI  PubMed
               28.      Chuene TA, Kgarose MF. The readiness of public hospitals on the implementation of national health insurance in South Africa: a
                   systematic review. Int J Soc Sci Res Rev 2023;6:153-66.  DOI
               29.      Pauw TL. Catching up with the constitution: an analysis of national health insurance in South Africa post-apartheid. Dev South Afr
                   2022;39:921-34.  DOI
               30.      Mukwena NV, Manyisa ZM. Factors influencing the preparedness for the implementation of the national health insurance scheme at a
                   selected hospital in Gauteng province, South Africa. BMC Health Serv Res 2022;22:1006.  DOI  PubMed  PMC
               31.      Murphy SD, Moosa S. The views of public service managers on the implementation of national health insurance in primary care: a
                   case of Johannesburg health district, gauteng province, republic of South Africa. BMC Health Serv Res 2021;21:969.  DOI  PubMed
                   PMC
               32.      Michel J, Tediosi F, Egger M, et al. Universal health coverage financing in South Africa: wishes vs reality. J Glob Health Rep
                   2020;4:e2020061.  DOI
               33.      National health insurance. Healthcare for all South Africans. Understanding national health insurance. Available from: https://www.
                   hst.org.za/publications/NonHST%20Publications/Booklet%20-%20Understanding%20National%20Health%20Insurance.pdf [Last
                   accessed on 27 Feb 2024].
               34.      Malherbe HL, Christianson AL, Aldous C. Need for services for the care and prevention of congenital disorders in South Africa as the
                   country’s epidemiological transition evolves. S Afr Med J 2015;105:186-8.  DOI  PubMed
               35.      Arnold C, Laura G, Hilary H, et al. Genetic testing in emerging economies (GenTEE). Summary report. Ispra, Italy: Publications
                   Office of the European Union. 2013. Available from: https://op.europa.eu/en/publication-detail/-/publication/12497195-cbaf-4af1-
                   b22f-8057e5b9b411 [Last accessed on 27 Feb 2024].
               36.      Malherbe HL, Christianson AL, Woods D, Aldous C. The case for the genetic nurse in South Africa. J Community Genet 2017;8:65-
                   73.  DOI  PubMed  PMC
               37.      Dorrington R, Bradshaw D, Laubscher R, Nannan N. Rapid mortality surveillance report 2018. Available from: https://www.samrc.ac.
                   za/sites/default/files/attachments/2022-08/RapidMortalitySurveillanceReport2018.pdf [Last accessed on 27 Feb 2024].
               38.      Malherbe HL, Aldous C, Woods D, Christianson A. The contribution of congenital disorders to child mortality in South Africa.
                   Durban: Health Systems Trust. 2016; pp. 137-52. Available from: https://www.hst.org.za/publications/South%20African%20Health%
                   20Reviews/12%20The%20contribution%20of%20congenital%20disorders%20to%20child%20mortality%20in%20South%20Africa.
                   pdf [Last accessed on 27 Feb 2024].
               39.      Kerber KJ, Lawn JE, Johnson LF, et al. South African child deaths 1990-2011: have HIV services reversed the trend enough to meet
                   millennium development goal 4? AIDS 2013;27:2637-48.  DOI
               40.      Perin J, Mai CT, De Costa A, et al. Systematic estimates of the global, regional and national under-5 mortality burden attributable to
                   birth defects in 2000-2019: a summary of findings from the 2020 WHO estimates. BMJ Open 2023;13:e067033.  DOI  PubMed  PMC
               41.     Christianson A. Community genetics in South Africa. Community Genet 2001;3:128-30.  DOI
               42.      Modell B, Kuliev A. The history of community genetics: the contribution of the haemoglobin disorders. Community Genet 1998;1:3-
                   11.  DOI  PubMed
               43.      Hitzeroth HW, Niehaus CE, Brill DC. Phenylketonuria in South Africa. A report on the status quo. S Afr Med J 1995;85:33-6.
                   PubMed
               44.      Jenkins T. Medical genetics in South Africa. J Med Genet 1990;27:760-79.  DOI  PubMed  PMC
               45.      Henderson HE, Goodman R, Schram J, Diamond E, Daneel A. Biochemical screening for inherited metabolic disorders in the mentally
                   retarded. S Afr Med J 1981;60:731-3.  PubMed
               46.      Hitzeroth H. Screening for congenital hypothyroidism in South Africa. Report on a national workshop (1992). S Afr Med J
                   1994;84:106-8. Available from: http://archive.samj.org.za/1994%20VOL%2084%20Jan-Dec/Articles/02%20February/1.17%
                   20SCREENING%20FOR%20CONGENITAL%20HYPOTHYROIDISM%20IN%20SOUTH%20AFRICA%20-%20REPORT%
                   20ON%20A%20NATIONAL%20WORKSHOP%201992.pdf [Last accessed on 29 Feb 2024]
               47.      Bernstein RE. Neonatal screening for congenital hypothyroidism. S Afr Med J 1979;56:1020-1.  PubMed
               48.      Bernstein RE, Op’t Hof J, Hitzeroth HW. Neonatal screening for congenital hypothyroidism. A decade's review, including South
                   Africa. S Afr Med J 1988;73:339-43.  PubMed
               49.      Bernstein RE. Congenital hypothyroidism. Clinicopathological aspects and biochemical screening. S Afr Med J 1981;59:710-4.
                   PubMed
               50.      Philotheou A, Bonnici F. Outcome for congenital hypothyroidism and early results of neonatal screening. In Paper presented at the
   55   56   57   58   59   60   61   62   63   64   65