Peroxisomal Metabolite and Cofactor Transport in Humans
Abstract Peroxisomes are membrane-bound organelles involved in many metabolic pathways and essential for human health. They harbor a large number…
Hans R. Waterham
Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
Authors: Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur Affiliations: CHOC…
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 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…