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Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.. , 2024

Link: http://hdl.handle.net/2263/94131

RT Journal
T1 <Title>Clinical, biochemical, and genetic spectrum of MADD in a South African cohort : an ICGNMD study</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivpretoria:oai:repository.up.ac.za:2263_94131&Exemplar=1&LAN=DE
				
A1 Bisschoff, Michelle
A1 Smuts, Izelle
A1 Dercksen, Marli
A1 Schoonen, Maryke
A1 Vorster, Barend C
A1 Van der Watt, George
A1 Spencer, Careni
A1 Naidu, Kireshnee
A1 Henning, Franclo
A1 Meldau, Surita
A1 McFarland, Robert
A1 Taylor, Robert W
A1 Patel, Krutik
A1 Fassad, Mahmoud R
A1 Vandrovcova, Jana
A1 Wanders, Ronald J.A
A1 Van der Westhuizen, Francois H
PB BMC
YR 2024
K1 Multiple acyl-CoA dehydrogenase deficiency (MADD)
K1 Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH)
K1 South Africa (SA)
K1 Glutaric aciduria type II
K1 Riboflavin
K1 International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)
JF Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.
LK http://hdl.handle.net/2263/94131
DO http://hdl.handle.net/2263/94131
SF ELIB - SuUB Bremen

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