Original paper
D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia
Abstract
Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are divided into four types based on the degree of activity of the 2-enoyl-CoA hydratase and...
Paper Details
Title
D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia
Published Date
May 1, 2015
Journal
Volume
52
Issue
5
Pages
539 - 543
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Notes
History