Merel S. Ebberink
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 13 publications
VUS: Variant of uncertain significance or very unclear situation?
Journal: Molecular genetics and metabolism
Published: June 28, 2023
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Journal: Journal of inherited metabolic disease
Published: August 30, 2022
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 19, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Journal: Journal of inherited metabolic disease
Published: February 04, 2022
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Journal: Genes
Published: October 26, 2021
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Journal: Human mutation
Published: April 29, 2019
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 03, 2017
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.
Journal: Journal of inherited metabolic disease
Published: December 29, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Journal: Human molecular genetics
Published: June 02, 2015
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Journal: Orphanet journal of rare diseases
Published: June 28, 2013
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Journal: Journal of medical genetics
Published: May 15, 2012
Last Updated: 09/26/2026