M. S. Ebberink

发表

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

S. Ferdinandusse, S. Denis, H. Waterham, 2010, Journal of Medical Genetics.

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

S. Ferdinandusse, H. Waterham, R. Wanders, 2016, Journal of Inherited Metabolic Disease.

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

H. Waterham, R. Wanders, J. Fock, 2012, Journal of Medical Genetics.

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

H. Waterham, R. Wanders, J. Koster, 2011, Human mutation.

Molecular and genetic characterization of peroxisome biogenesis disorders

M. S. Ebberink, 2010 .

Genotype‐phenotype correlation in PEX5‐deficient peroxisome biogenesis defective cell lines

H. Waterham, R. Wanders, F. Eyskens, 2009, Human mutation.

Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

S. Ferdinandusse, H. Waterham, R. Wanders, 2018 .

Mutations in PEX10 are a cause of autosomal recessive ataxia

H. Waterham, R. Wanders, L. de Meirleir, 2010, Annals of neurology.

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

S. Ferdinandusse, S. Denis, H. Waterham, 2018, Biochimica et biophysica acta. Molecular basis of disease.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

H. Waterham, R. Wanders, B. Poll-The, 2013, Orphanet Journal of Rare Diseases.

Genetics and molecular basis of human peroxisome biogenesis disorders.

H. Waterham, M. S. Ebberink, M. Ebberink, 2012, Biochimica et biophysica acta.

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder

H. Waterham, R. Wanders, Abdel-Rahman Nasr, 2010, American journal of medical genetics. Part A.

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

H. Waterham, R. Wanders, S. Korman, 2007, Journal of Human Genetics.

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

H. Waterham, R. Wanders, M. S. Ebberink, 2010, Human mutation.

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Human mutation.

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

S. Ferdinandusse, H. Waterham, H. Blom, 2021, JIMD reports.

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

S. Ferdinandusse, N. Darín, J. Ruiter, 2022, Journal of inherited metabolic disease.

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

S. Ferdinandusse, S. Denis, H. Waterham, 2010, Journal of Medical Genetics.

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Samantha L. van der Beek, S. Ferdinandusse, A. Heijboer, 2022, Journal of inherited metabolic disease.

VUS: Variant of uncertain significance or very unclear situation?

J. Orsini, S. Kemp, T. Lund, 2023, Molecular genetics and metabolism.

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

S. Ferdinandusse, M. Vera, S. Kemp, 2021, Genes.

S. Ferdinandusse, J. Haasjes, H. Lenthe, 2019 .