Surita Meldau

Department Of Pathology University Of Cape Town Cape Town South Africa
Cape Town, WC, South Africa

Last Updated: 09/26/2026

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Found 20 publications

Neonatal HIV prophylaxis is associated with accelerated presentation and clinical progression of MPV17-related mitochondrial neurohepatopathy.

Neonatal HIV prophylaxis is associated with accelerated presentation and clinical progression of MPV17-related mitochondrial neurohepatopathy.

Journal: BMC pediatrics

Published: February 11, 2026

Retrospective observational study of the magnetic resonance imaging features of MPV17-related mitochondrial DNA depletion syndrome.

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.

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.

Journal: JIMD reports

Published: January 30, 2025

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

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

Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.

Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.

Journal: African journal of laboratory medicine

Published: December 05, 2023

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

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

Journal: Orphanet journal of rare diseases

Published: July 07, 2023

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Journal: Frontiers in pediatrics

Published: August 31, 2022

Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease.

Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease.

Journal: Parkinsonism & related disorders

Published: February 22, 2022

Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.

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.

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

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Journal: Human mutation

Published: March 24, 2020

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Last Updated: 09/26/2026