Disorders of fatty acid homeostasis
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely…
Sacha Ferdinandusse
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics
Abstract Electronic supplementary material: The online version of this article (doi:10.1007/s10545-017-0076-9) contains supplementary material, which is available to authorized users.…
Cholic acid therapy in Zellweger spectrum disorders
Abstract Introduction: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in…
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Abstract Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead…
Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum
Abstract Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid…
Zellweger spectrum disorders: clinical overview and management approach
Abstract Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes.…
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
Abstract Introduction: We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Methods: Retrospective…
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Abstract Objective: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). Case report: Two brothers are…