Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Neuroscience

• Blood Plasma 100%
• Very Long Chain Fatty Acid 50%
• Leukoencephalopathy 33%
• Peroxisomal Disorder 33%
• Fibroblast 16%
• Hypotonia 16%
• Missense Mutation 16%
• Autosomal Recessive Disorder 16%

Biochemistry, Genetics and Molecular Biology

• Blood Plasma 100%
• Very Long Chain Fatty Acid 50%
• Genetic Screening 16%
• Missense Mutation 16%
• Fibroblast 16%
• Metabolite 16%
• Autosomal Recessive Disorder 16%