Search filters

List of works by Merel S. Ebberink

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

scientific article published on 03 July 2019

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

scientific article published on September 1, 2010

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 degrees C

scientific article

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

scientific article

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

scientific article published in May 2012

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

scientific article published on 28 July 2015

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

scientific article published on 9 September 2013

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

scientific article published on January 1, 2011

Genetics and molecular basis of human peroxisome biogenesis disorders

scientific article published on 25 April 2012

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

scientific article

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

scientific article

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

scholarly article

Mutations in PEX10 are a cause of autosomal recessive ataxia.

scientific article published on August 2010

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

scientific article published on January 2010

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

scientific article published on 04 March 2016

Paulina is supported by:

About Paulina

Help