Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Medicine and Dentistry

• Chenodeoxycholic Acid 100%
• Therapeutic Procedure 100%
• CYP27A1 80%
• Magnetic Resonance Imaging 60%
• Follow up 60%
• Sibling 60%
• Cataract 40%
• Xanthoma 40%
• Neurologic Finding 40%
• Serum 20%
• Prognostic Factor 20%
• Lesion 20%
• Cognition 20%
• Combination Therapy 20%
• Phenotype 20%
• Deterioration 20%
• Clinical Feature 20%
• Enzyme 20%
• Neurologic Disease 20%
• Autosomal Recessive Inheritance 20%
• Ataxia 20%
• Dentate Nucleus 20%
• Spastic Paraplegia 20%
• Intellectual Disability 20%
• Diagnosis 20%
• Gene 20%
• Case Presentation 20%
• Sphingolipidoses 20%
• Cholestanol 20%
• Cerebral Peduncle 20%
• Bile Acid Synthesis 20%
• Man 20%
• Atrophy 20%
• Limb 20%
• Early Diagnosis 20%

Neuroscience

• Chenodeoxycholic Acid 100%
• Cholestanetriol 26 Monooxygenase 80%
• Magnetic Resonance Imaging 60%
• Cerebellum 40%
• Internal Capsule 40%
• Brain 40%
• Cataract 40%
• Enzymes 20%
• Ataxia 20%
• Phenotype 20%
• Dentate Nucleus 20%
• Paraplegia 20%
• Gene 20%
• Intellectual Disability 20%
• Cerebral Peduncle 20%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• Chenodeoxycholic Acid 100%
• CYP27A1 60%
• Proband 40%
• Case Report 40%
• Nested Gene 20%
• Lysozyme 20%
• Phenotype 20%
• Autosomal Recessive Inheritance 20%
• Cognition 20%
• Bile Acid Synthesis 20%
• Time 20%
• Contrast 20%