Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype–phenotype analysis

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Crystal structure of the liganded SCP-2-like domain of human peroxisomal multifunctional enzyme type 2 at 1.75 Å resolution 1 1Edited by R. Huber

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Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency

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Developmental and pathological expression of peroxisomal enzymes: their relationship of d-bifunctional protein deficiency and Zellweger syndrome

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A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency

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New 17β‐Hydroxysteroid Dehydrogenases

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Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

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Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

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Peroxisomes in brain development and function

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Peroxisomal D-bifunctional protein deficiency

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