Associated Papers
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
Huang X et al.
Plos One, 2025
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Klouwer FCC et al.
Journal of Inherited Metabolic Disease, 2019
Development and validation of a severity scoring system for Zellweger spectrum disorders.
Klouwer FCC et al.
Clinical Genetics, 2018
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
Berendse K et al.
Orphanet Journal of Rare Diseases, 2014
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