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Publications by Johannes HTM Koelman

The Neurology of Rhizomelic Chondrodysplasia Punctata

Orphanet Journal of Rare Diseases

English

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Chondrodysplasia Punctata

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Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

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Aberrant Subcellular Localization of Peroxisomal 3-Ketoacyl-CoA Thiolase in the Zellweger Syndrome and Rhizomelic Chondrodysplasia Punctata

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Oral Administration of a Synthetic Vinyl-Ether Plasmalogen Normalizes Open Field Activity in a Mouse Model of Rhizomelic Chondrodysplasia Punctata

DMM Disease Models and Mechanisms

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