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  1. 1
    Comparative analysis of urine organic acid profiles in South African patients with MPV17-related mitochondrial neurohepatopathy

    Comparative analysis of urine organic acid profiles in South African patients with MPV17-related mitochondrial neurohepatopathy von Perumal, M., Van Der Watt, G.F., Dercksen, M., Vorster, B.C., Meldau, S.

    Veröffentlicht in Clinica chimica acta

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  2. 2
    The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide

    The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide von Dercksen, M, Conradie, E H, Hendriksz, C J, Malherbe, H, Vorster, B C


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  3. 3
    ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

    ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients von Dercksen, M, Crutchley, A.C, Honey, E.M, Lippert, M.M, Matthijs, Gert, Mienie, L.J, Schuman, H.C, Vorster, B.C, Jaeken, Jaak


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