Detalhe da pesquisa
1.
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
2.
International Paediatric Mitochondrial Disease Scale.
J Inherit Metab Dis
; 39(5): 705-712, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27277220
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.
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
J Inherit Metab Dis
; 36(6): 913-21, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355087
5.
Medullary neuroschistosomiasis in a pediatric patient: a case report.
Radiol Case Rep
; 17(3): 462-466, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950274
6.
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
7.
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
8.
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.
Hum Mutat
; 36(5): 569-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25764011
9.
Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.
J Inherit Metab Dis
; 33 Suppl 3: S55-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082143
10.
An overview of a cohort of South African patients with mitochondrial disorders.
J Inherit Metab Dis
; 33 Suppl 3: S95-104, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20135231
11.
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
12.
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
13.
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?
S Afr Med J
; 106(3): 234-6, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915934
14.
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.
Eur J Hum Genet
; 20(6): 650-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258525
15.
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.
Ann N Y Acad Sci
; 1151: 77-84, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19154518
16.
Characterization of rotavirus infection in a hospital neonatal unit in Pretoria, South Africa.
J Trop Pediatr
; 48(3): 167-71, 2002 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-12164601