Detalhe da pesquisa
1.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
2.
The dilemma of diagnosing coenzyme Q10 deficiency in muscle.
Mol Genet Metab
; 125(1-2): 38-43, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29530532
3.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet J Rare Dis
; 19(1): 15, 2024 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221620
4.
A case for genomic medicine in South African paediatric patients with neuromuscular disease.
Front Pediatr
; 10: 1033299, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467485
5.
Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study.
Front Nutr
; 8: 692504, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368208
6.
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Int J Biochem Cell Biol
; 132: 105899, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279678
7.
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.
J Mol Diagn
; 21(3): 503-513, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30872186
8.
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
J Neurol Sci
; 384: 121-125, 2018 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29249369
9.
A call for global action for rare diseases in Africa.
Nat Genet
; 52(1): 21-26, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31873296