Gillian T. Riordan
University Of Cape Town
Cape Town, WC, South Africa
Cape Town, WC, South Africa
Last Updated: 09/26/2026
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Found 16 publications
Neonatal HIV prophylaxis is associated with accelerated presentation and clinical progression of MPV17-related mitochondrial neurohepatopathy.
Journal: BMC pediatrics
Published: February 11, 2026
Performance of the Experimental EuroQol Toddler and Infant Populations (EQ-TIPS) and PedsQL in Infants and Toddlers with a Health Condition.
Journal: Journal of health economics and outcomes research
Published: September 10, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Journal: Molecular genetics and metabolism
Published: May 31, 2025
Retrospective observational study of the magnetic resonance imaging features of MPV17-related mitochondrial DNA depletion syndrome.
Journal: Pediatric radiology
Published: March 05, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.
Journal: JIMD reports
Published: January 30, 2025
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Journal: Molecular genetics and metabolism reports
Published: December 13, 2023
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Journal: Epilepsia
Published: July 14, 2023
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 20, 2022
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
Journal: Journal of clinical pathology
Published: August 13, 2020
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Journal: Molecular genetics and metabolism reports
Published: May 27, 2020
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Journal: Seminars in pediatric neurology
Published: July 03, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Journal: EBioMedicine
Published: January 09, 2018
Last Updated: 09/26/2026