Marli Dercksen

Potchefstroom, NW, South Africa

Last Updated: 09/26/2026

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Found 10 publications

Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

Journal: Movement disorders clinical practice

Published: October 18, 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

The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation.

The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation.

Journal: Computational and structural biotechnology journal

Published: November 15, 2022

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa.

An Overview of Benefits and Challenges of Rare Disease Biobanking in Africa, Focusing on South Africa.

Journal: Biopreservation and biobanking

Published: February 10, 2021

Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.

Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.

Journal: Clinical chemistry

Published: October 01, 2020

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Journal: The international journal of biochemistry & cell biology

Published: August 07, 2020

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

Journal: Journal of the neurological sciences

Published: July 12, 2017

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Journal: Molecular genetics and metabolism

Published: October 11, 2016

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Journal: Journal of inherited metabolic disease

Published: August 09, 2016

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Journal: Journal of inherited metabolic disease

Published: September 08, 2015

Showing 1-10 of 10

Last Updated: 09/26/2026