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  1. Article

    Open Access

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common chara...

    Veerle RC Eggens, Peter G Barth… in Orphanet Journal of Rare Diseases (2014)

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    Article

    Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: Cytochemical and morphometric data

    Peroxisomes were visualized by cytochemical staining for catalase or/and electron microscopy in liver biopsies of two boys with childhood adrenoleukodystrophy (ALD), and of two girls with autopsy confirmed neo...

    Frank Roels, Marina Pauwels, Bwee Tien Poll-Thé, Jacques Scotto… in Virchows Archiv A (1988)