Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Autor: Bisschoff, Michelle¹ (AUTHOR), Smuts, Izelle² (AUTHOR), Dercksen, Marli³ (AUTHOR), Schoonen, Maryke¹ (AUTHOR), Vorster, Barend C.³ (AUTHOR), van der Watt, George⁴ (AUTHOR), Spencer, Careni⁵ (AUTHOR), Naidu, Kireshnee⁶ (AUTHOR), Henning, Franclo⁶ (AUTHOR), Meldau, Surita⁴ (AUTHOR), McFarland, Robert^7,8 (AUTHOR), Taylor, Robert W.^7,8 (AUTHOR), Patel, Krutik⁷ (AUTHOR), Fassad, Mahmoud R.⁷ (AUTHOR), Vandrovcova, Jana⁹ (AUTHOR), Wanders, Ronald J. A.¹⁰ (AUTHOR), van der Westhuizen, Francois H.¹ (AUTHOR) Francois.VanDerWesthuizen@nwu.ac.za

Publikováno v: Orphanet Journal of Rare Diseases. 1/14/2024, Vol. 19 Issue 1, p1-13. 13p.